SNP Links for Protein (Select 767932089) - SNP

Select item 14878569721.

rs1487856972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:173313958 (GRCh38)
4:174235109 (GRCh37)
Canonical SPDI:: NC_000004.12:173313957:A:C
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.173313958A>C, NC_000004.11:g.174235109A>C, XM_011532025.4:c.1267A>C, XM_011532025.3:c.1267A>C, XM_011532025.2:c.1267A>C, XM_011532025.1:c.1267A>C, XM_017008292.3:c.1342A>C, XM_017008292.2:c.1342A>C, XM_017008292.1:c.1342A>C, NM_017423.3:c.1390A>C, NM_017423.2:c.1390A>C, XM_047415779.1:c.1342A>C, XM_047415778.1:c.1342A>C, XM_047415782.1:c.1267A>C, XM_047415781.1:c.1267A>C, XM_047415780.1:c.1342A>C, NM_001375599.1:c.1390A>C, NM_001375600.1:c.1390A>C, NM_001375601.1:c.1009A>C, XP_011530327.1:p.Asn423His, XP_016863781.1:p.Asn448His, NP_059119.2:p.Asn464His, XP_047271735.1:p.Asn448His, XP_047271734.1:p.Asn448His, XP_047271738.1:p.Asn423His, XP_047271737.1:p.Asn423His, XP_047271736.1:p.Asn448His, NP_001362528.1:p.Asn464His, NP_001362529.1:p.Asn464His, NP_001362530.1:p.Asn337His

Select item 14872189282.

rs1487218928 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATAC [Show Flanks]
Chromosome:: 4:173292109 (GRCh38)
4:174213261 (GRCh37)
Canonical SPDI:: NC_000004.12:173292109::ATAC
Gene:: GALNT7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: ATAC=0./0 (ALFA)
ATAC=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.173292109_173292110insATAC, NC_000004.11:g.174213260_174213261insATAC, XM_011532025.4:c.466_467insATAC, XM_011532025.3:c.466_467insATAC, XM_011532025.2:c.466_467insATAC, XM_011532025.1:c.466_467insATAC, XM_017008292.3:c.541_542insATAC, XM_017008292.2:c.541_542insATAC, XM_017008292.1:c.541_542insATAC, NM_017423.3:c.589_590insATAC, NM_017423.2:c.589_590insATAC, XM_047415779.1:c.541_542insATAC, XM_047415778.1:c.541_542insATAC, XM_047415782.1:c.466_467insATAC, XM_047415781.1:c.466_467insATAC, XM_047415780.1:c.541_542insATAC, NM_001375599.1:c.589_590insATAC, NM_001375600.1:c.589_590insATAC, NM_001375601.1:c.589_590insATAC, XP_011530327.1:p.Cys156fs, XP_016863781.1:p.Cys181fs, NP_059119.2:p.Cys197fs, XP_047271735.1:p.Cys181fs, XP_047271734.1:p.Cys181fs, XP_047271738.1:p.Cys156fs, XP_047271737.1:p.Cys156fs, XP_047271736.1:p.Cys181fs, NP_001362528.1:p.Cys197fs, NP_001362529.1:p.Cys197fs, NP_001362530.1:p.Cys197fs

Select item 14860347573.

rs1486034757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:173314034 (GRCh38)
4:174235185 (GRCh37)
Canonical SPDI:: NC_000004.12:173314033:C:T
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.173314034C>T, NC_000004.11:g.174235185C>T, XM_011532025.4:c.1343C>T, XM_011532025.3:c.1343C>T, XM_011532025.2:c.1343C>T, XM_011532025.1:c.1343C>T, XM_017008292.3:c.1418C>T, XM_017008292.2:c.1418C>T, XM_017008292.1:c.1418C>T, NM_017423.3:c.1466C>T, NM_017423.2:c.1466C>T, XM_047415779.1:c.1418C>T, XM_047415778.1:c.1418C>T, XM_047415782.1:c.1343C>T, XM_047415781.1:c.1343C>T, XM_047415780.1:c.1418C>T, NM_001375599.1:c.1466C>T, NM_001375600.1:c.1466C>T, NM_001375601.1:c.1085C>T, XP_011530327.1:p.Ala448Val, XP_016863781.1:p.Ala473Val, NP_059119.2:p.Ala489Val, XP_047271735.1:p.Ala473Val, XP_047271734.1:p.Ala473Val, XP_047271738.1:p.Ala448Val, XP_047271737.1:p.Ala448Val, XP_047271736.1:p.Ala473Val, NP_001362528.1:p.Ala489Val, NP_001362529.1:p.Ala489Val, NP_001362530.1:p.Ala362Val

Select item 14854859564.

rs1485485956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:173318453 (GRCh38)
4:174239604 (GRCh37)
Canonical SPDI:: NC_000004.12:173318452:A:G
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.173318453A>G, NC_000004.11:g.174239604A>G, XM_011532025.4:c.1607A>G, XM_011532025.3:c.1607A>G, XM_011532025.2:c.1607A>G, XM_011532025.1:c.1607A>G, XM_017008292.3:c.1682A>G, XM_017008292.2:c.1682A>G, XM_017008292.1:c.1682A>G, NM_017423.3:c.1730A>G, NM_017423.2:c.1730A>G, XM_047415779.1:c.1682A>G, XM_047415778.1:c.1682A>G, XM_047415782.1:c.1607A>G, XM_047415781.1:c.1607A>G, XM_047415780.1:c.1682A>G, NM_001375599.1:c.1730A>G, NM_001375600.1:c.1631A>G, NM_001375601.1:c.1349A>G, XP_011530327.1:p.Asn536Ser, XP_016863781.1:p.Asn561Ser, NP_059119.2:p.Asn577Ser, XP_047271735.1:p.Asn561Ser, XP_047271734.1:p.Asn561Ser, XP_047271738.1:p.Asn536Ser, XP_047271737.1:p.Asn536Ser, XP_047271736.1:p.Asn561Ser, NP_001362528.1:p.Asn577Ser, NP_001362529.1:p.Asn544Ser, NP_001362530.1:p.Asn450Ser

Select item 14845209685.

rs1484520968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:173298277 (GRCh38)
4:174219428 (GRCh37)
Canonical SPDI:: NC_000004.12:173298276:G:A
Gene:: GALNT7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.173298277G>A, NC_000004.11:g.174219428G>A, XM_011532025.4:c.1005G>A, XM_011532025.3:c.1005G>A, XM_011532025.2:c.1005G>A, XM_011532025.1:c.1005G>A, XM_017008292.3:c.1080G>A, XM_017008292.2:c.1080G>A, XM_017008292.1:c.1080G>A, NM_017423.3:c.1128G>A, NM_017423.2:c.1128G>A, XM_047415778.1:c.1080G>A, XM_047415781.1:c.1005G>A, XM_047415780.1:c.1080G>A, NM_001375600.1:c.1128G>A

Select item 14829467786.

rs1482946778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:173248262 (GRCh38)
4:174169413 (GRCh37)
Canonical SPDI:: NC_000004.12:173248261:C:G
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.173248262C>G, NC_000004.11:g.174169413C>G, XM_011532025.4:c.286C>G, XM_011532025.3:c.286C>G, XM_011532025.2:c.286C>G, XM_011532025.1:c.286C>G, XM_017008292.3:c.361C>G, XM_017008292.2:c.361C>G, XM_017008292.1:c.361C>G, NM_017423.3:c.409C>G, NM_017423.2:c.409C>G, XM_047415779.1:c.361C>G, XM_047415778.1:c.361C>G, XM_047415782.1:c.286C>G, XM_047415781.1:c.286C>G, XM_047415780.1:c.361C>G, NM_001375599.1:c.409C>G, NM_001375600.1:c.409C>G, NM_001375601.1:c.409C>G, XP_011530327.1:p.Pro96Ala, XP_016863781.1:p.Pro121Ala, NP_059119.2:p.Pro137Ala, XP_047271735.1:p.Pro121Ala, XP_047271734.1:p.Pro121Ala, XP_047271738.1:p.Pro96Ala, XP_047271737.1:p.Pro96Ala, XP_047271736.1:p.Pro121Ala, NP_001362528.1:p.Pro137Ala, NP_001362529.1:p.Pro137Ala, NP_001362530.1:p.Pro137Ala

Select item 14824687777.

rs1482468777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:173302112 (GRCh38)
4:174223263 (GRCh37)
Canonical SPDI:: NC_000004.12:173302111:A:G
Gene:: GALNT7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.173302112A>G, NC_000004.11:g.174223263A>G, XM_011532025.4:c.1091A>G, XM_011532025.3:c.1091A>G, XM_011532025.2:c.1091A>G, XM_011532025.1:c.1091A>G, XM_017008292.3:c.1166A>G, XM_017008292.2:c.1166A>G, XM_017008292.1:c.1166A>G, NM_017423.3:c.1214A>G, NM_017423.2:c.1214A>G, XM_047415779.1:c.1166A>G, XM_047415778.1:c.1166A>G, XM_047415782.1:c.1091A>G, XM_047415781.1:c.1091A>G, XM_047415780.1:c.1166A>G, NM_001375599.1:c.1214A>G, NM_001375600.1:c.1214A>G, XP_011530327.1:p.Tyr364Cys, XP_016863781.1:p.Tyr389Cys, NP_059119.2:p.Tyr405Cys, XP_047271735.1:p.Tyr389Cys, XP_047271734.1:p.Tyr389Cys, XP_047271738.1:p.Tyr364Cys, XP_047271737.1:p.Tyr364Cys, XP_047271736.1:p.Tyr389Cys, NP_001362528.1:p.Tyr405Cys, NP_001362529.1:p.Tyr405Cys

Select item 14811443018.

rs1481144301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:173248398 (GRCh38)
4:174169549 (GRCh37)
Canonical SPDI:: NC_000004.12:173248397:T:C,NC_000004.12:173248397:T:G
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.173248398T>C, NC_000004.12:g.173248398T>G, NC_000004.11:g.174169549T>C, NC_000004.11:g.174169549T>G, XM_011532025.4:c.422T>C, XM_011532025.4:c.422T>G, XM_011532025.3:c.422T>C, XM_011532025.3:c.422T>G, XM_011532025.2:c.422T>C, XM_011532025.2:c.422T>G, XM_011532025.1:c.422T>C, XM_011532025.1:c.422T>G, XM_017008292.3:c.497T>C, XM_017008292.3:c.497T>G, XM_017008292.2:c.497T>C, XM_017008292.2:c.497T>G, XM_017008292.1:c.497T>C, XM_017008292.1:c.497T>G, NM_017423.3:c.545T>C, NM_017423.3:c.545T>G, NM_017423.2:c.545T>C, NM_017423.2:c.545T>G, XM_047415779.1:c.497T>C, XM_047415779.1:c.497T>G, XM_047415778.1:c.497T>C, XM_047415778.1:c.497T>G, XM_047415782.1:c.422T>C, XM_047415782.1:c.422T>G, XM_047415781.1:c.422T>C, XM_047415781.1:c.422T>G, XM_047415780.1:c.497T>C, XM_047415780.1:c.497T>G, NM_001375599.1:c.545T>C, NM_001375599.1:c.545T>G, NM_001375600.1:c.545T>C, NM_001375600.1:c.545T>G, NM_001375601.1:c.545T>C, NM_001375601.1:c.545T>G, XP_011530327.1:p.Met141Thr, XP_011530327.1:p.Met141Arg, XP_016863781.1:p.Met166Thr, XP_016863781.1:p.Met166Arg, NP_059119.2:p.Met182Thr, NP_059119.2:p.Met182Arg, XP_047271735.1:p.Met166Thr, XP_047271735.1:p.Met166Arg, XP_047271734.1:p.Met166Thr, XP_047271734.1:p.Met166Arg, XP_047271738.1:p.Met141Thr, XP_047271738.1:p.Met141Arg, XP_047271737.1:p.Met141Thr, XP_047271737.1:p.Met141Arg, XP_047271736.1:p.Met166Thr, XP_047271736.1:p.Met166Arg, NP_001362528.1:p.Met182Thr, NP_001362528.1:p.Met182Arg, NP_001362529.1:p.Met182Thr, NP_001362529.1:p.Met182Arg, NP_001362530.1:p.Met182Thr, NP_001362530.1:p.Met182Arg

Select item 14785655569.

rs1478565556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:173298225 (GRCh38)
4:174219376 (GRCh37)
Canonical SPDI:: NC_000004.12:173298224:G:A
Gene:: GALNT7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.173298225G>A, NC_000004.11:g.174219376G>A, XM_011532025.4:c.953G>A, XM_011532025.3:c.953G>A, XM_011532025.2:c.953G>A, XM_011532025.1:c.953G>A, XM_017008292.3:c.1028G>A, XM_017008292.2:c.1028G>A, XM_017008292.1:c.1028G>A, NM_017423.3:c.1076G>A, NM_017423.2:c.1076G>A, XM_047415778.1:c.1028G>A, XM_047415781.1:c.953G>A, XM_047415780.1:c.1028G>A, NM_001375600.1:c.1076G>A, XP_011530327.1:p.Ser318Asn, XP_016863781.1:p.Ser343Asn, NP_059119.2:p.Ser359Asn, XP_047271734.1:p.Ser343Asn, XP_047271737.1:p.Ser318Asn, XP_047271736.1:p.Ser343Asn, NP_001362529.1:p.Ser359Asn

Select item 147754423310.

rs1477544233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:173302134 (GRCh38)
4:174223285 (GRCh37)
Canonical SPDI:: NC_000004.12:173302133:G:A
Gene:: GALNT7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.173302134G>A, NC_000004.11:g.174223285G>A, XM_011532025.4:c.1113G>A, XM_011532025.3:c.1113G>A, XM_011532025.2:c.1113G>A, XM_011532025.1:c.1113G>A, XM_017008292.3:c.1188G>A, XM_017008292.2:c.1188G>A, XM_017008292.1:c.1188G>A, NM_017423.3:c.1236G>A, NM_017423.2:c.1236G>A, XM_047415779.1:c.1188G>A, XM_047415778.1:c.1188G>A, XM_047415782.1:c.1113G>A, XM_047415781.1:c.1113G>A, XM_047415780.1:c.1188G>A, NM_001375599.1:c.1236G>A, NM_001375600.1:c.1236G>A, XP_011530327.1:p.Trp371Ter, XP_016863781.1:p.Trp396Ter, NP_059119.2:p.Trp412Ter, XP_047271735.1:p.Trp396Ter, XP_047271734.1:p.Trp396Ter, XP_047271738.1:p.Trp371Ter, XP_047271737.1:p.Trp371Ter, XP_047271736.1:p.Trp396Ter, NP_001362528.1:p.Trp412Ter, NP_001362529.1:p.Trp412Ter

Select item 147732897611.

rs1477328976 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:173321698 (GRCh38)
4:174242849 (GRCh37)
Canonical SPDI:: NC_000004.12:173321697:A:G
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.173321698A>G, NC_000004.11:g.174242849A>G, XM_011532025.4:c.1832A>G, XM_011532025.3:c.1832A>G, XM_011532025.2:c.1832A>G, XM_011532025.1:c.1832A>G, XM_017008292.3:c.1907A>G, XM_017008292.2:c.1907A>G, XM_017008292.1:c.1907A>G, NM_017423.3:c.1955A>G, NM_017423.2:c.1955A>G, XM_047415779.1:c.1907A>G, XM_047415778.1:c.1907A>G, XM_047415782.1:c.1832A>G, XM_047415781.1:c.1832A>G, XM_047415780.1:c.1907A>G, NM_001375599.1:c.1955A>G, NM_001375600.1:c.1856A>G, NM_001375601.1:c.1574A>G, XP_011530327.1:p.Asn611Ser, XP_016863781.1:p.Asn636Ser, NP_059119.2:p.Asn652Ser, XP_047271735.1:p.Asn636Ser, XP_047271734.1:p.Asn636Ser, XP_047271738.1:p.Asn611Ser, XP_047271737.1:p.Asn611Ser, XP_047271736.1:p.Asn636Ser, NP_001362528.1:p.Asn652Ser, NP_001362529.1:p.Asn619Ser, NP_001362530.1:p.Asn525Ser

Select item 147555870612.

rs1475558706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:173313967 (GRCh38)
4:174235118 (GRCh37)
Canonical SPDI:: NC_000004.12:173313966:A:G
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.173313967A>G, NC_000004.11:g.174235118A>G, XM_011532025.4:c.1276A>G, XM_011532025.3:c.1276A>G, XM_011532025.2:c.1276A>G, XM_011532025.1:c.1276A>G, XM_017008292.3:c.1351A>G, XM_017008292.2:c.1351A>G, XM_017008292.1:c.1351A>G, NM_017423.3:c.1399A>G, NM_017423.2:c.1399A>G, XM_047415779.1:c.1351A>G, XM_047415778.1:c.1351A>G, XM_047415782.1:c.1276A>G, XM_047415781.1:c.1276A>G, XM_047415780.1:c.1351A>G, NM_001375599.1:c.1399A>G, NM_001375600.1:c.1399A>G, NM_001375601.1:c.1018A>G, XP_011530327.1:p.Arg426Gly, XP_016863781.1:p.Arg451Gly, NP_059119.2:p.Arg467Gly, XP_047271735.1:p.Arg451Gly, XP_047271734.1:p.Arg451Gly, XP_047271738.1:p.Arg426Gly, XP_047271737.1:p.Arg426Gly, XP_047271736.1:p.Arg451Gly, NP_001362528.1:p.Arg467Gly, NP_001362529.1:p.Arg467Gly, NP_001362530.1:p.Arg340Gly

Select item 147511469213.

rs1475114692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:173314079 (GRCh38)
4:174235230 (GRCh37)
Canonical SPDI:: NC_000004.12:173314078:A:T
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_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_000004.12:g.173314079A>T, NC_000004.11:g.174235230A>T, XM_011532025.4:c.1388A>T, XM_011532025.3:c.1388A>T, XM_011532025.2:c.1388A>T, XM_011532025.1:c.1388A>T, XM_017008292.3:c.1463A>T, XM_017008292.2:c.1463A>T, XM_017008292.1:c.1463A>T, NM_017423.3:c.1511A>T, NM_017423.2:c.1511A>T, XM_047415779.1:c.1463A>T, XM_047415778.1:c.1463A>T, XM_047415782.1:c.1388A>T, XM_047415781.1:c.1388A>T, XM_047415780.1:c.1463A>T, NM_001375599.1:c.1511A>T, NM_001375600.1:c.1511A>T, NM_001375601.1:c.1130A>T, XP_011530327.1:p.Asp463Val, XP_016863781.1:p.Asp488Val, NP_059119.2:p.Asp504Val, XP_047271735.1:p.Asp488Val, XP_047271734.1:p.Asp488Val, XP_047271738.1:p.Asp463Val, XP_047271737.1:p.Asp463Val, XP_047271736.1:p.Asp488Val, NP_001362528.1:p.Asp504Val, NP_001362529.1:p.Asp504Val, NP_001362530.1:p.Asp377Val

Select item 147448181114.

rs1474481811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:173248164 (GRCh38)
4:174169315 (GRCh37)
Canonical SPDI:: NC_000004.12:173248163:A:G
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.173248164A>G, NC_000004.11:g.174169315A>G, XM_011532025.4:c.188A>G, XM_011532025.3:c.188A>G, XM_011532025.2:c.188A>G, XM_011532025.1:c.188A>G, XM_017008292.3:c.263A>G, XM_017008292.2:c.263A>G, XM_017008292.1:c.263A>G, NM_017423.3:c.311A>G, NM_017423.2:c.311A>G, XM_047415779.1:c.263A>G, XM_047415778.1:c.263A>G, XM_047415782.1:c.188A>G, XM_047415781.1:c.188A>G, XM_047415780.1:c.263A>G, NM_001375599.1:c.311A>G, NM_001375600.1:c.311A>G, NM_001375601.1:c.311A>G, XP_011530327.1:p.Gln63Arg, XP_016863781.1:p.Gln88Arg, NP_059119.2:p.Gln104Arg, XP_047271735.1:p.Gln88Arg, XP_047271734.1:p.Gln88Arg, XP_047271738.1:p.Gln63Arg, XP_047271737.1:p.Gln63Arg, XP_047271736.1:p.Gln88Arg, NP_001362528.1:p.Gln104Arg, NP_001362529.1:p.Gln104Arg, NP_001362530.1:p.Gln104Arg

Select item 146833167115.

rs1468331671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:173292186 (GRCh38)
4:174213337 (GRCh37)
Canonical SPDI:: NC_000004.12:173292185:C:T
Gene:: GALNT7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.173292186C>T, NC_000004.11:g.174213337C>T, XM_011532025.4:c.543C>T, XM_011532025.3:c.543C>T, XM_011532025.2:c.543C>T, XM_011532025.1:c.543C>T, XM_017008292.3:c.618C>T, XM_017008292.2:c.618C>T, XM_017008292.1:c.618C>T, NM_017423.3:c.666C>T, NM_017423.2:c.666C>T, XM_047415779.1:c.618C>T, XM_047415778.1:c.618C>T, XM_047415782.1:c.543C>T, XM_047415781.1:c.543C>T, XM_047415780.1:c.618C>T, NM_001375599.1:c.666C>T, NM_001375600.1:c.666C>T, NM_001375601.1:c.666C>T

Select item 146741401416.

rs1467414014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:173298233 (GRCh38)
4:174219384 (GRCh37)
Canonical SPDI:: NC_000004.12:173298232:T:C
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.173298233T>C, NC_000004.11:g.174219384T>C, XM_011532025.4:c.961T>C, XM_011532025.3:c.961T>C, XM_011532025.2:c.961T>C, XM_011532025.1:c.961T>C, XM_017008292.3:c.1036T>C, XM_017008292.2:c.1036T>C, XM_017008292.1:c.1036T>C, NM_017423.3:c.1084T>C, NM_017423.2:c.1084T>C, XM_047415778.1:c.1036T>C, XM_047415781.1:c.961T>C, XM_047415780.1:c.1036T>C, NM_001375600.1:c.1084T>C, XP_011530327.1:p.Trp321Arg, XP_016863781.1:p.Trp346Arg, NP_059119.2:p.Trp362Arg, XP_047271734.1:p.Trp346Arg, XP_047271737.1:p.Trp321Arg, XP_047271736.1:p.Trp346Arg, NP_001362529.1:p.Trp362Arg

Select item 146623399617.

rs1466233996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:173317725 (GRCh38)
4:174238876 (GRCh37)
Canonical SPDI:: NC_000004.12:173317724:G:A
Gene:: GALNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.173317725G>A, NC_000004.11:g.174238876G>A, XM_011532025.4:c.1577G>A, XM_011532025.3:c.1577G>A, XM_011532025.2:c.1577G>A, XM_011532025.1:c.1577G>A, XM_017008292.3:c.1652G>A, XM_017008292.2:c.1652G>A, XM_017008292.1:c.1652G>A, NM_017423.3:c.1700G>A, NM_017423.2:c.1700G>A, XM_047415779.1:c.1652G>A, XM_047415778.1:c.1652G>A, XM_047415782.1:c.1577G>A, XM_047415781.1:c.1577G>A, XM_047415780.1:c.1652G>A, NM_001375599.1:c.1700G>A, NM_001375601.1:c.1319G>A, XP_011530327.1:p.Gly526Glu, XP_016863781.1:p.Gly551Glu, NP_059119.2:p.Gly567Glu, XP_047271735.1:p.Gly551Glu, XP_047271734.1:p.Gly551Glu, XP_047271738.1:p.Gly526Glu, XP_047271737.1:p.Gly526Glu, XP_047271736.1:p.Gly551Glu, NP_001362528.1:p.Gly567Glu, NP_001362530.1:p.Gly440Glu

Select item 146476065918.

rs1464760659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:173321626 (GRCh38)
4:174242777 (GRCh37)
Canonical SPDI:: NC_000004.12:173321625:G:A,NC_000004.12:173321625:G:T
Gene:: GALNT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.173321626G>A, NC_000004.12:g.173321626G>T, NC_000004.11:g.174242777G>A, NC_000004.11:g.174242777G>T, XM_011532025.4:c.1760G>A, XM_011532025.4:c.1760G>T, XM_011532025.3:c.1760G>A, XM_011532025.3:c.1760G>T, XM_011532025.2:c.1760G>A, XM_011532025.2:c.1760G>T, XM_011532025.1:c.1760G>A, XM_011532025.1:c.1760G>T, XM_017008292.3:c.1835G>A, XM_017008292.3:c.1835G>T, XM_017008292.2:c.1835G>A, XM_017008292.2:c.1835G>T, XM_017008292.1:c.1835G>A, XM_017008292.1:c.1835G>T, NM_017423.3:c.1883G>A, NM_017423.3:c.1883G>T, NM_017423.2:c.1883G>A, NM_017423.2:c.1883G>T, XM_047415779.1:c.1835G>A, XM_047415779.1:c.1835G>T, XM_047415778.1:c.1835G>A, XM_047415778.1:c.1835G>T, XM_047415782.1:c.1760G>A, XM_047415782.1:c.1760G>T, XM_047415781.1:c.1760G>A, XM_047415781.1:c.1760G>T, XM_047415780.1:c.1835G>A, XM_047415780.1:c.1835G>T, NM_001375599.1:c.1883G>A, NM_001375599.1:c.1883G>T, NM_001375600.1:c.1784G>A, NM_001375600.1:c.1784G>T, NM_001375601.1:c.1502G>A, NM_001375601.1:c.1502G>T, XP_011530327.1:p.Arg587His, XP_011530327.1:p.Arg587Leu, XP_016863781.1:p.Arg612His, XP_016863781.1:p.Arg612Leu, NP_059119.2:p.Arg628His, NP_059119.2:p.Arg628Leu, XP_047271735.1:p.Arg612His, XP_047271735.1:p.Arg612Leu, XP_047271734.1:p.Arg612His, XP_047271734.1:p.Arg612Leu, XP_047271738.1:p.Arg587His, XP_047271738.1:p.Arg587Leu, XP_047271737.1:p.Arg587His, XP_047271737.1:p.Arg587Leu, XP_047271736.1:p.Arg612His, XP_047271736.1:p.Arg612Leu, NP_001362528.1:p.Arg628His, NP_001362528.1:p.Arg628Leu, NP_001362529.1:p.Arg595His, NP_001362529.1:p.Arg595Leu, NP_001362530.1:p.Arg501His, NP_001362530.1:p.Arg501Leu

Select item 146069182819.

rs1460691828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:173248399 (GRCh38)
4:174169550 (GRCh37)
Canonical SPDI:: NC_000004.12:173248398:G:C
Gene:: GALNT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.173248399G>C, NC_000004.11:g.174169550G>C, XM_011532025.4:c.423G>C, XM_011532025.3:c.423G>C, XM_011532025.2:c.423G>C, XM_011532025.1:c.423G>C, XM_017008292.3:c.498G>C, XM_017008292.2:c.498G>C, XM_017008292.1:c.498G>C, NM_017423.3:c.546G>C, NM_017423.2:c.546G>C, XM_047415779.1:c.498G>C, XM_047415778.1:c.498G>C, XM_047415782.1:c.423G>C, XM_047415781.1:c.423G>C, XM_047415780.1:c.498G>C, NM_001375599.1:c.546G>C, NM_001375600.1:c.546G>C, NM_001375601.1:c.546G>C, XP_011530327.1:p.Met141Ile, XP_016863781.1:p.Met166Ile, NP_059119.2:p.Met182Ile, XP_047271735.1:p.Met166Ile, XP_047271734.1:p.Met166Ile, XP_047271738.1:p.Met141Ile, XP_047271737.1:p.Met141Ile, XP_047271736.1:p.Met166Ile, NP_001362528.1:p.Met182Ile, NP_001362529.1:p.Met182Ile, NP_001362530.1:p.Met182Ile

Select item 145844834320.

rs1458448343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:173292192 (GRCh38)
4:174213343 (GRCh37)
Canonical SPDI:: NC_000004.12:173292191:G:A
Gene:: GALNT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.173292192G>A, NC_000004.11:g.174213343G>A, XM_011532025.4:c.549G>A, XM_011532025.3:c.549G>A, XM_011532025.2:c.549G>A, XM_011532025.1:c.549G>A, XM_017008292.3:c.624G>A, XM_017008292.2:c.624G>A, XM_017008292.1:c.624G>A, NM_017423.3:c.672G>A, NM_017423.2:c.672G>A, XM_047415779.1:c.624G>A, XM_047415778.1:c.624G>A, XM_047415782.1:c.549G>A, XM_047415781.1:c.549G>A, XM_047415780.1:c.624G>A, NM_001375599.1:c.672G>A, NM_001375600.1:c.672G>A, NM_001375601.1:c.672G>A, XP_011530327.1:p.Met183Ile, XP_016863781.1:p.Met208Ile, NP_059119.2:p.Met224Ile, XP_047271735.1:p.Met208Ile, XP_047271734.1:p.Met208Ile, XP_047271738.1:p.Met183Ile, XP_047271737.1:p.Met183Ile, XP_047271736.1:p.Met208Ile, NP_001362528.1:p.Met224Ile, NP_001362529.1:p.Met224Ile, NP_001362530.1:p.Met224Ile

dbSNP

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Result Filters

Clinical Significance

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Items: 1 to 20 of 477

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