SNP Links for Protein (Select 148612868) - SNP

Select item 14914681541.

rs1491468154 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTTC [Show Flanks]
Chromosome:: 19:57493562 (GRCh38)
19:58004931 (GRCh37)
Canonical SPDI:: NC_000019.10:57493562::GTTC
Gene:: ZNF419 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.57493562_57493563insGTTC, NC_000019.9:g.58004930_58004931insGTTC, NG_054882.1:g.10852_10853insGTTC, NM_024691.4:c.1005_1006insGTTC, NM_024691.3:c.1005_1006insGTTC, NM_001098491.2:c.1008_1009insGTTC, NM_001098491.1:c.1008_1009insGTTC, NM_001098492.2:c.969_970insGTTC, NM_001098492.1:c.969_970insGTTC, NM_001098493.2:c.966_967insGTTC, NM_001098493.1:c.966_967insGTTC, NM_001291744.2:c.741_742insGTTC, NM_001291744.1:c.741_742insGTTC, NM_001098494.2:c.909_910insGTTC, NM_001098494.1:c.909_910insGTTC, NM_001291743.2:c.906_907insGTTC, NM_001291743.1:c.906_907insGTTC, NM_001098495.2:c.870_871insGTTC, NM_001098495.1:c.870_871insGTTC, NM_001098496.2:c.867_868insGTTC, NM_001098496.1:c.867_868insGTTC, NP_078967.3:p.Ile336fs, NP_001091961.1:p.Ile337fs, NP_001091962.1:p.Ile324fs, NP_001091963.1:p.Ile323fs, NP_001278673.1:p.Ile248fs, NP_001091964.1:p.Ile304fs, NP_001278672.1:p.Ile303fs, NP_001091965.1:p.Ile291fs, NP_001091966.1:p.Ile290fs

Select item 14893932692.

rs1489393269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57493363 (GRCh38)
19:58004731 (GRCh37)
Canonical SPDI:: NC_000019.10:57493362:G:T
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57493363G>T, NC_000019.9:g.58004731G>T, NG_054882.1:g.10653G>T, NM_024691.4:c.806G>T, NM_024691.3:c.806G>T, NM_001098491.2:c.809G>T, NM_001098491.1:c.809G>T, NM_001098492.2:c.770G>T, NM_001098492.1:c.770G>T, NM_001098493.2:c.767G>T, NM_001098493.1:c.767G>T, NM_001291744.2:c.542G>T, NM_001291744.1:c.542G>T, NM_001098494.2:c.710G>T, NM_001098494.1:c.710G>T, NM_001291743.2:c.707G>T, NM_001291743.1:c.707G>T, NM_001098495.2:c.671G>T, NM_001098495.1:c.671G>T, NM_001098496.2:c.668G>T, NM_001098496.1:c.668G>T, NP_078967.3:p.Ser269Ile, NP_001091961.1:p.Ser270Ile, NP_001091962.1:p.Ser257Ile, NP_001091963.1:p.Ser256Ile, NP_001278673.1:p.Ser181Ile, NP_001091964.1:p.Ser237Ile, NP_001278672.1:p.Ser236Ile, NP_001091965.1:p.Ser224Ile, NP_001091966.1:p.Ser223Ile

Select item 14891770923.

rs1489177092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57493980 (GRCh38)
19:58005348 (GRCh37)
Canonical SPDI:: NC_000019.10:57493979:A:G
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57493980A>G, NC_000019.9:g.58005348A>G, NG_054882.1:g.11270A>G, NM_024691.4:c.1423A>G, NM_024691.3:c.1423A>G, NM_001098491.2:c.1426A>G, NM_001098491.1:c.1426A>G, NM_001098492.2:c.1387A>G, NM_001098492.1:c.1387A>G, NM_001098493.2:c.1384A>G, NM_001098493.1:c.1384A>G, NM_001291744.2:c.1159A>G, NM_001291744.1:c.1159A>G, NM_001098494.2:c.1327A>G, NM_001098494.1:c.1327A>G, NM_001291743.2:c.1324A>G, NM_001291743.1:c.1324A>G, NM_001098495.2:c.1288A>G, NM_001098495.1:c.1288A>G, NM_001098496.2:c.1285A>G, NM_001098496.1:c.1285A>G, NP_078967.3:p.Arg475Gly, NP_001091961.1:p.Arg476Gly, NP_001091962.1:p.Arg463Gly, NP_001091963.1:p.Arg462Gly, NP_001278673.1:p.Arg387Gly, NP_001091964.1:p.Arg443Gly, NP_001278672.1:p.Arg442Gly, NP_001091965.1:p.Arg430Gly, NP_001091966.1:p.Arg429Gly

Select item 14858360524.

rs1485836052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57492974 (GRCh38)
19:58004342 (GRCh37)
Canonical SPDI:: NC_000019.10:57492973:A:G
Gene:: ZNF419 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57492974A>G, NC_000019.9:g.58004342A>G, NG_054882.1:g.10264A>G, NM_024691.4:c.417A>G, NM_024691.3:c.417A>G, NM_001098491.2:c.420A>G, NM_001098491.1:c.420A>G, NM_001098492.2:c.381A>G, NM_001098492.1:c.381A>G, NM_001098493.2:c.378A>G, NM_001098493.1:c.378A>G, NM_001291744.2:c.153A>G, NM_001291744.1:c.153A>G, NM_001098494.2:c.321A>G, NM_001098494.1:c.321A>G, NM_001291743.2:c.318A>G, NM_001291743.1:c.318A>G, NM_001098495.2:c.282A>G, NM_001098495.1:c.282A>G, NM_001098496.2:c.279A>G, NM_001098496.1:c.279A>G

Select item 14848388955.

rs1484838895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57493912 (GRCh38)
19:58005280 (GRCh37)
Canonical SPDI:: NC_000019.10:57493911:A:G
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57493912A>G, NC_000019.9:g.58005280A>G, NG_054882.1:g.11202A>G, NM_024691.4:c.1355A>G, NM_024691.3:c.1355A>G, NM_001098491.2:c.1358A>G, NM_001098491.1:c.1358A>G, NM_001098492.2:c.1319A>G, NM_001098492.1:c.1319A>G, NM_001098493.2:c.1316A>G, NM_001098493.1:c.1316A>G, NM_001291744.2:c.1091A>G, NM_001291744.1:c.1091A>G, NM_001098494.2:c.1259A>G, NM_001098494.1:c.1259A>G, NM_001291743.2:c.1256A>G, NM_001291743.1:c.1256A>G, NM_001098495.2:c.1220A>G, NM_001098495.1:c.1220A>G, NM_001098496.2:c.1217A>G, NM_001098496.1:c.1217A>G, NP_078967.3:p.Glu452Gly, NP_001091961.1:p.Glu453Gly, NP_001091962.1:p.Glu440Gly, NP_001091963.1:p.Glu439Gly, NP_001278673.1:p.Glu364Gly, NP_001091964.1:p.Glu420Gly, NP_001278672.1:p.Glu419Gly, NP_001091965.1:p.Glu407Gly, NP_001091966.1:p.Glu406Gly

Select item 14831020726.

rs1483102072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:57493441 (GRCh38)
19:58004809 (GRCh37)
Canonical SPDI:: NC_000019.10:57493440:C:A,NC_000019.10:57493440:C:T
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57493441C>A, NC_000019.10:g.57493441C>T, NC_000019.9:g.58004809C>A, NC_000019.9:g.58004809C>T, NG_054882.1:g.10731C>A, NG_054882.1:g.10731C>T, NM_024691.4:c.884C>A, NM_024691.4:c.884C>T, NM_024691.3:c.884C>A, NM_024691.3:c.884C>T, NM_001098491.2:c.887C>A, NM_001098491.2:c.887C>T, NM_001098491.1:c.887C>A, NM_001098491.1:c.887C>T, NM_001098492.2:c.848C>A, NM_001098492.2:c.848C>T, NM_001098492.1:c.848C>A, NM_001098492.1:c.848C>T, NM_001098493.2:c.845C>A, NM_001098493.2:c.845C>T, NM_001098493.1:c.845C>A, NM_001098493.1:c.845C>T, NM_001291744.2:c.620C>A, NM_001291744.2:c.620C>T, NM_001291744.1:c.620C>A, NM_001291744.1:c.620C>T, NM_001098494.2:c.788C>A, NM_001098494.2:c.788C>T, NM_001098494.1:c.788C>A, NM_001098494.1:c.788C>T, NM_001291743.2:c.785C>A, NM_001291743.2:c.785C>T, NM_001291743.1:c.785C>A, NM_001291743.1:c.785C>T, NM_001098495.2:c.749C>A, NM_001098495.2:c.749C>T, NM_001098495.1:c.749C>A, NM_001098495.1:c.749C>T, NM_001098496.2:c.746C>A, NM_001098496.2:c.746C>T, NM_001098496.1:c.746C>A, NM_001098496.1:c.746C>T, NP_078967.3:p.Ala295Asp, NP_078967.3:p.Ala295Val, NP_001091961.1:p.Ala296Asp, NP_001091961.1:p.Ala296Val, NP_001091962.1:p.Ala283Asp, NP_001091962.1:p.Ala283Val, NP_001091963.1:p.Ala282Asp, NP_001091963.1:p.Ala282Val, NP_001278673.1:p.Ala207Asp, NP_001278673.1:p.Ala207Val, NP_001091964.1:p.Ala263Asp, NP_001091964.1:p.Ala263Val, NP_001278672.1:p.Ala262Asp, NP_001278672.1:p.Ala262Val, NP_001091965.1:p.Ala250Asp, NP_001091965.1:p.Ala250Val, NP_001091966.1:p.Ala249Asp, NP_001091966.1:p.Ala249Val

Select item 14818515967.

rs1481851596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57494072 (GRCh38)
19:58005440 (GRCh37)
Canonical SPDI:: NC_000019.10:57494071:C:T
Gene:: ZNF419 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57494072C>T, NC_000019.9:g.58005440C>T, NG_054882.1:g.11362C>T, NM_024691.4:c.1515C>T, NM_024691.3:c.1515C>T, NM_001098491.2:c.1518C>T, NM_001098491.1:c.1518C>T, NM_001098492.2:c.1479C>T, NM_001098492.1:c.1479C>T, NM_001098493.2:c.1476C>T, NM_001098493.1:c.1476C>T, NM_001291744.2:c.1251C>T, NM_001291744.1:c.1251C>T, NM_001098494.2:c.1419C>T, NM_001098494.1:c.1419C>T, NM_001291743.2:c.1416C>T, NM_001291743.1:c.1416C>T, NM_001098495.2:c.1380C>T, NM_001098495.1:c.1380C>T, NM_001098496.2:c.1377C>T, NM_001098496.1:c.1377C>T

Select item 14813453458.

rs1481345345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57492952 (GRCh38)
19:58004320 (GRCh37)
Canonical SPDI:: NC_000019.10:57492951:G:T
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57492952G>T, NC_000019.9:g.58004320G>T, NG_054882.1:g.10242G>T, NM_024691.4:c.395G>T, NM_024691.3:c.395G>T, NM_001098491.2:c.398G>T, NM_001098491.1:c.398G>T, NM_001098492.2:c.359G>T, NM_001098492.1:c.359G>T, NM_001098493.2:c.356G>T, NM_001098493.1:c.356G>T, NM_001291744.2:c.131G>T, NM_001291744.1:c.131G>T, NM_001098494.2:c.299G>T, NM_001098494.1:c.299G>T, NM_001291743.2:c.296G>T, NM_001291743.1:c.296G>T, NM_001098495.2:c.260G>T, NM_001098495.1:c.260G>T, NM_001098496.2:c.257G>T, NM_001098496.1:c.257G>T, NP_078967.3:p.Cys132Phe, NP_001091961.1:p.Cys133Phe, NP_001091962.1:p.Cys120Phe, NP_001091963.1:p.Cys119Phe, NP_001278673.1:p.Cys44Phe, NP_001091964.1:p.Cys100Phe, NP_001278672.1:p.Cys99Phe, NP_001091965.1:p.Cys87Phe, NP_001091966.1:p.Cys86Phe

Select item 14781960029.

rs1478196002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57492997 (GRCh38)
19:58004365 (GRCh37)
Canonical SPDI:: NC_000019.10:57492996:T:C
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.57492997T>C, NC_000019.9:g.58004365T>C, NG_054882.1:g.10287T>C, NM_024691.4:c.440T>C, NM_024691.3:c.440T>C, NM_001098491.2:c.443T>C, NM_001098491.1:c.443T>C, NM_001098492.2:c.404T>C, NM_001098492.1:c.404T>C, NM_001098493.2:c.401T>C, NM_001098493.1:c.401T>C, NM_001291744.2:c.176T>C, NM_001291744.1:c.176T>C, NM_001098494.2:c.344T>C, NM_001098494.1:c.344T>C, NM_001291743.2:c.341T>C, NM_001291743.1:c.341T>C, NM_001098495.2:c.305T>C, NM_001098495.1:c.305T>C, NM_001098496.2:c.302T>C, NM_001098496.1:c.302T>C, NP_078967.3:p.Leu147Ser, NP_001091961.1:p.Leu148Ser, NP_001091962.1:p.Leu135Ser, NP_001091963.1:p.Leu134Ser, NP_001278673.1:p.Leu59Ser, NP_001091964.1:p.Leu115Ser, NP_001278672.1:p.Leu114Ser, NP_001091965.1:p.Leu102Ser, NP_001091966.1:p.Leu101Ser

Select item 147774304410.

rs1477743044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:57493048 (GRCh38)
19:58004416 (GRCh37)
Canonical SPDI:: NC_000019.10:57493047:T:G
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57493048T>G, NC_000019.9:g.58004416T>G, NG_054882.1:g.10338T>G, NM_024691.4:c.491T>G, NM_024691.3:c.491T>G, NM_001098491.2:c.494T>G, NM_001098491.1:c.494T>G, NM_001098492.2:c.455T>G, NM_001098492.1:c.455T>G, NM_001098493.2:c.452T>G, NM_001098493.1:c.452T>G, NM_001291744.2:c.227T>G, NM_001291744.1:c.227T>G, NM_001098494.2:c.395T>G, NM_001098494.1:c.395T>G, NM_001291743.2:c.392T>G, NM_001291743.1:c.392T>G, NM_001098495.2:c.356T>G, NM_001098495.1:c.356T>G, NM_001098496.2:c.353T>G, NM_001098496.1:c.353T>G, NP_078967.3:p.Val164Gly, NP_001091961.1:p.Val165Gly, NP_001091962.1:p.Val152Gly, NP_001091963.1:p.Val151Gly, NP_001278673.1:p.Val76Gly, NP_001091964.1:p.Val132Gly, NP_001278672.1:p.Val131Gly, NP_001091965.1:p.Val119Gly, NP_001091966.1:p.Val118Gly

Select item 147300458211.

rs1473004582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:57493126 (GRCh38)
19:58004494 (GRCh37)
Canonical SPDI:: NC_000019.10:57493125:C:A
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57493126C>A, NC_000019.9:g.58004494C>A, NG_054882.1:g.10416C>A, NM_024691.4:c.569C>A, NM_024691.3:c.569C>A, NM_001098491.2:c.572C>A, NM_001098491.1:c.572C>A, NM_001098492.2:c.533C>A, NM_001098492.1:c.533C>A, NM_001098493.2:c.530C>A, NM_001098493.1:c.530C>A, NM_001291744.2:c.305C>A, NM_001291744.1:c.305C>A, NM_001098494.2:c.473C>A, NM_001098494.1:c.473C>A, NM_001291743.2:c.470C>A, NM_001291743.1:c.470C>A, NM_001098495.2:c.434C>A, NM_001098495.1:c.434C>A, NM_001098496.2:c.431C>A, NM_001098496.1:c.431C>A, NP_078967.3:p.Ser190Tyr, NP_001091961.1:p.Ser191Tyr, NP_001091962.1:p.Ser178Tyr, NP_001091963.1:p.Ser177Tyr, NP_001278673.1:p.Ser102Tyr, NP_001091964.1:p.Ser158Tyr, NP_001278672.1:p.Ser157Tyr, NP_001091965.1:p.Ser145Tyr, NP_001091966.1:p.Ser144Tyr

Select item 147289331012.

rs1472893310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57493537 (GRCh38)
19:58004905 (GRCh37)
Canonical SPDI:: NC_000019.10:57493536:A:G
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.57493537A>G, NC_000019.9:g.58004905A>G, NG_054882.1:g.10827A>G, NM_024691.4:c.980A>G, NM_024691.3:c.980A>G, NM_001098491.2:c.983A>G, NM_001098491.1:c.983A>G, NM_001098492.2:c.944A>G, NM_001098492.1:c.944A>G, NM_001098493.2:c.941A>G, NM_001098493.1:c.941A>G, NM_001291744.2:c.716A>G, NM_001291744.1:c.716A>G, NM_001098494.2:c.884A>G, NM_001098494.1:c.884A>G, NM_001291743.2:c.881A>G, NM_001291743.1:c.881A>G, NM_001098495.2:c.845A>G, NM_001098495.1:c.845A>G, NM_001098496.2:c.842A>G, NM_001098496.1:c.842A>G, NP_078967.3:p.Asn327Ser, NP_001091961.1:p.Asn328Ser, NP_001091962.1:p.Asn315Ser, NP_001091963.1:p.Asn314Ser, NP_001278673.1:p.Asn239Ser, NP_001091964.1:p.Asn295Ser, NP_001278672.1:p.Asn294Ser, NP_001091965.1:p.Asn282Ser, NP_001091966.1:p.Asn281Ser

Select item 147176971213.

rs1471769712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:57493109 (GRCh38)
19:58004477 (GRCh37)
Canonical SPDI:: NC_000019.10:57493108:G:C
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57493109G>C, NC_000019.9:g.58004477G>C, NG_054882.1:g.10399G>C, NM_024691.4:c.552G>C, NM_024691.3:c.552G>C, NM_001098491.2:c.555G>C, NM_001098491.1:c.555G>C, NM_001098492.2:c.516G>C, NM_001098492.1:c.516G>C, NM_001098493.2:c.513G>C, NM_001098493.1:c.513G>C, NM_001291744.2:c.288G>C, NM_001291744.1:c.288G>C, NM_001098494.2:c.456G>C, NM_001098494.1:c.456G>C, NM_001291743.2:c.453G>C, NM_001291743.1:c.453G>C, NM_001098495.2:c.417G>C, NM_001098495.1:c.417G>C, NM_001098496.2:c.414G>C, NM_001098496.1:c.414G>C, NP_078967.3:p.Glu184Asp, NP_001091961.1:p.Glu185Asp, NP_001091962.1:p.Glu172Asp, NP_001091963.1:p.Glu171Asp, NP_001278673.1:p.Glu96Asp, NP_001091964.1:p.Glu152Asp, NP_001278672.1:p.Glu151Asp, NP_001091965.1:p.Glu139Asp, NP_001091966.1:p.Glu138Asp

Select item 147132719214.

rs1471327192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57493328 (GRCh38)
19:58004696 (GRCh37)
Canonical SPDI:: NC_000019.10:57493327:G:A
Gene:: ZNF419 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.57493328G>A, NC_000019.9:g.58004696G>A, NG_054882.1:g.10618G>A, NM_024691.4:c.771G>A, NM_024691.3:c.771G>A, NM_001098491.2:c.774G>A, NM_001098491.1:c.774G>A, NM_001098492.2:c.735G>A, NM_001098492.1:c.735G>A, NM_001098493.2:c.732G>A, NM_001098493.1:c.732G>A, NM_001291744.2:c.507G>A, NM_001291744.1:c.507G>A, NM_001098494.2:c.675G>A, NM_001098494.1:c.675G>A, NM_001291743.2:c.672G>A, NM_001291743.1:c.672G>A, NM_001098495.2:c.636G>A, NM_001098495.1:c.636G>A, NM_001098496.2:c.633G>A, NM_001098496.1:c.633G>A

Select item 147099470215.

rs1470994702 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:57493415 (GRCh38)
19:58004783 (GRCh37)
Canonical SPDI:: NC_000019.10:57493414:TTTT:TTT
Gene:: ZNF419 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.57493418del, NC_000019.9:g.58004786del, NG_054882.1:g.10708del, NM_024691.4:c.861del, NM_024691.3:c.861del, NM_001098491.2:c.864del, NM_001098491.1:c.864del, NM_001098492.2:c.825del, NM_001098492.1:c.825del, NM_001098493.2:c.822del, NM_001098493.1:c.822del, NM_001291744.2:c.597del, NM_001291744.1:c.597del, NM_001098494.2:c.765del, NM_001098494.1:c.765del, NM_001291743.2:c.762del, NM_001291743.1:c.762del, NM_001098495.2:c.726del, NM_001098495.1:c.726del, NM_001098496.2:c.723del, NM_001098496.1:c.723del, NP_078967.3:p.Phe287fs, NP_001091961.1:p.Phe288fs, NP_001091962.1:p.Phe275fs, NP_001091963.1:p.Phe274fs, NP_001278673.1:p.Phe199fs, NP_001091964.1:p.Phe255fs, NP_001278672.1:p.Phe254fs, NP_001091965.1:p.Phe242fs, NP_001091966.1:p.Phe241fs

Select item 146935927016.

rs1469359270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57493034 (GRCh38)
19:58004402 (GRCh37)
Canonical SPDI:: NC_000019.10:57493033:G:A
Gene:: ZNF419 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.57493034G>A, NC_000019.9:g.58004402G>A, NG_054882.1:g.10324G>A, NM_024691.4:c.477G>A, NM_024691.3:c.477G>A, NM_001098491.2:c.480G>A, NM_001098491.1:c.480G>A, NM_001098492.2:c.441G>A, NM_001098492.1:c.441G>A, NM_001098493.2:c.438G>A, NM_001098493.1:c.438G>A, NM_001291744.2:c.213G>A, NM_001291744.1:c.213G>A, NM_001098494.2:c.381G>A, NM_001098494.1:c.381G>A, NM_001291743.2:c.378G>A, NM_001291743.1:c.378G>A, NM_001098495.2:c.342G>A, NM_001098495.1:c.342G>A, NM_001098496.2:c.339G>A, NM_001098496.1:c.339G>A

Select item 146669072617.

rs1466690726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:57493585 (GRCh38)
19:58004953 (GRCh37)
Canonical SPDI:: NC_000019.10:57493584:A:G,NC_000019.10:57493584:A:T
Gene:: ZNF419 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.57493585A>G, NC_000019.10:g.57493585A>T, NC_000019.9:g.58004953A>G, NC_000019.9:g.58004953A>T, NG_054882.1:g.10875A>G, NG_054882.1:g.10875A>T, NM_024691.4:c.1028A>G, NM_024691.4:c.1028A>T, NM_024691.3:c.1028A>G, NM_024691.3:c.1028A>T, NM_001098491.2:c.1031A>G, NM_001098491.2:c.1031A>T, NM_001098491.1:c.1031A>G, NM_001098491.1:c.1031A>T, NM_001098492.2:c.992A>G, NM_001098492.2:c.992A>T, NM_001098492.1:c.992A>G, NM_001098492.1:c.992A>T, NM_001098493.2:c.989A>G, NM_001098493.2:c.989A>T, NM_001098493.1:c.989A>G, NM_001098493.1:c.989A>T, NM_001291744.2:c.764A>G, NM_001291744.2:c.764A>T, NM_001291744.1:c.764A>G, NM_001291744.1:c.764A>T, NM_001098494.2:c.932A>G, NM_001098494.2:c.932A>T, NM_001098494.1:c.932A>G, NM_001098494.1:c.932A>T, NM_001291743.2:c.929A>G, NM_001291743.2:c.929A>T, NM_001291743.1:c.929A>G, NM_001291743.1:c.929A>T, NM_001098495.2:c.893A>G, NM_001098495.2:c.893A>T, NM_001098495.1:c.893A>G, NM_001098495.1:c.893A>T, NM_001098496.2:c.890A>G, NM_001098496.2:c.890A>T, NM_001098496.1:c.890A>G, NM_001098496.1:c.890A>T, NP_078967.3:p.Tyr343Cys, NP_078967.3:p.Tyr343Phe, NP_001091961.1:p.Tyr344Cys, NP_001091961.1:p.Tyr344Phe, NP_001091962.1:p.Tyr331Cys, NP_001091962.1:p.Tyr331Phe, NP_001091963.1:p.Tyr330Cys, NP_001091963.1:p.Tyr330Phe, NP_001278673.1:p.Tyr255Cys, NP_001278673.1:p.Tyr255Phe, NP_001091964.1:p.Tyr311Cys, NP_001091964.1:p.Tyr311Phe, NP_001278672.1:p.Tyr310Cys, NP_001278672.1:p.Tyr310Phe, NP_001091965.1:p.Tyr298Cys, NP_001091965.1:p.Tyr298Phe, NP_001091966.1:p.Tyr297Cys, NP_001091966.1:p.Tyr297Phe

Select item 146391351818.

rs1463913518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57493822 (GRCh38)
19:58005190 (GRCh37)
Canonical SPDI:: NC_000019.10:57493821:C:T
Gene:: ZNF419 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.57493822C>T, NC_000019.9:g.58005190C>T, NG_054882.1:g.11112C>T, NM_024691.4:c.1265C>T, NM_024691.3:c.1265C>T, NM_001098491.2:c.1268C>T, NM_001098491.1:c.1268C>T, NM_001098492.2:c.1229C>T, NM_001098492.1:c.1229C>T, NM_001098493.2:c.1226C>T, NM_001098493.1:c.1226C>T, NM_001291744.2:c.1001C>T, NM_001291744.1:c.1001C>T, NM_001098494.2:c.1169C>T, NM_001098494.1:c.1169C>T, NM_001291743.2:c.1166C>T, NM_001291743.1:c.1166C>T, NM_001098495.2:c.1130C>T, NM_001098495.1:c.1130C>T, NM_001098496.2:c.1127C>T, NM_001098496.1:c.1127C>T, NP_078967.3:p.Thr422Ile, NP_001091961.1:p.Thr423Ile, NP_001091962.1:p.Thr410Ile, NP_001091963.1:p.Thr409Ile, NP_001278673.1:p.Thr334Ile, NP_001091964.1:p.Thr390Ile, NP_001278672.1:p.Thr389Ile, NP_001091965.1:p.Thr377Ile, NP_001091966.1:p.Thr376Ile

Select item 146347225319.

rs1463472253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:57493420 (GRCh38)
19:58004788 (GRCh37)
Canonical SPDI:: NC_000019.10:57493419:C:A
Gene:: ZNF419 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000019.10:g.57493420C>A, NC_000019.9:g.58004788C>A, NG_054882.1:g.10710C>A, NM_024691.4:c.863C>A, NM_024691.3:c.863C>A, NM_001098491.2:c.866C>A, NM_001098491.1:c.866C>A, NM_001098492.2:c.827C>A, NM_001098492.1:c.827C>A, NM_001098493.2:c.824C>A, NM_001098493.1:c.824C>A, NM_001291744.2:c.599C>A, NM_001291744.1:c.599C>A, NM_001098494.2:c.767C>A, NM_001098494.1:c.767C>A, NM_001291743.2:c.764C>A, NM_001291743.1:c.764C>A, NM_001098495.2:c.728C>A, NM_001098495.1:c.728C>A, NM_001098496.2:c.725C>A, NM_001098496.1:c.725C>A, NP_078967.3:p.Thr288Lys, NP_001091961.1:p.Thr289Lys, NP_001091962.1:p.Thr276Lys, NP_001091963.1:p.Thr275Lys, NP_001278673.1:p.Thr200Lys, NP_001091964.1:p.Thr256Lys, NP_001278672.1:p.Thr255Lys, NP_001091965.1:p.Thr243Lys, NP_001091966.1:p.Thr242Lys

Select item 146314110220.

rs1463141102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:57494043 (GRCh38)
19:58005411 (GRCh37)
Canonical SPDI:: NC_000019.10:57494042:T:G
Gene:: ZNF419 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.57494043T>G, NC_000019.9:g.58005411T>G, NG_054882.1:g.11333T>G, NM_024691.4:c.1486T>G, NM_024691.3:c.1486T>G, NM_001098491.2:c.1489T>G, NM_001098491.1:c.1489T>G, NM_001098492.2:c.1450T>G, NM_001098492.1:c.1450T>G, NM_001098493.2:c.1447T>G, NM_001098493.1:c.1447T>G, NM_001291744.2:c.1222T>G, NM_001291744.1:c.1222T>G, NM_001098494.2:c.1390T>G, NM_001098494.1:c.1390T>G, NM_001291743.2:c.1387T>G, NM_001291743.1:c.1387T>G, NM_001098495.2:c.1351T>G, NM_001098495.1:c.1351T>G, NM_001098496.2:c.1348T>G, NM_001098496.1:c.1348T>G, NP_078967.3:p.Ser496Ala, NP_001091961.1:p.Ser497Ala, NP_001091962.1:p.Ser484Ala, NP_001091963.1:p.Ser483Ala, NP_001278673.1:p.Ser408Ala, NP_001091964.1:p.Ser464Ala, NP_001278672.1:p.Ser463Ala, NP_001091965.1:p.Ser451Ala, NP_001091966.1:p.Ser450Ala

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Clinical Significance

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Items: 1 to 20 of 574

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