SNP Links for Protein (Select 4504821) - SNP

Links from Protein

Items: 1 to 20 of 445

<< First< Prev

Page of 23

Next >Last >>

Select item 14851923321.

rs1485192332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4810667 (GRCh38)
12:4919833 (GRCh37)
Canonical SPDI:: NC_000012.12:4810666:G:A
Gene:: KCNA6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4810667G>A, NC_000012.11:g.4919833G>A, NM_002235.5:c.626G>A, NM_002235.4:c.626G>A, NM_002235.3:c.626G>A, XM_017019271.2:c.626G>A, XM_017019271.1:c.626G>A, XM_017019272.2:c.626G>A, XM_017019272.1:c.626G>A, XM_017019270.2:c.626G>A, XM_017019270.1:c.626G>A, NR_172523.1:n.1334G>A, NM_001395212.1:c.626G>A, NR_172524.1:n.1334G>A, NM_001395213.1:c.626G>A, NR_172525.1:n.1334G>A, NP_002226.1:p.Gly209Asp, XP_016874760.1:p.Gly209Asp, XP_016874761.1:p.Gly209Asp, XP_016874759.1:p.Gly209Asp

Select item 14794999182.

rs1479499918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:4810457 (GRCh38)
12:4919623 (GRCh37)
Canonical SPDI:: NC_000012.12:4810456:G:T
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4810457G>T, NC_000012.11:g.4919623G>T, NM_002235.5:c.416G>T, NM_002235.4:c.416G>T, NM_002235.3:c.416G>T, XM_017019271.2:c.416G>T, XM_017019271.1:c.416G>T, XM_017019272.2:c.416G>T, XM_017019272.1:c.416G>T, XM_017019270.2:c.416G>T, XM_017019270.1:c.416G>T, NR_172523.1:n.1124G>T, NM_001395212.1:c.416G>T, NR_172524.1:n.1124G>T, NM_001395213.1:c.416G>T, NR_172525.1:n.1124G>T, NP_002226.1:p.Gly139Val, XP_016874760.1:p.Gly139Val, XP_016874761.1:p.Gly139Val, XP_016874759.1:p.Gly139Val

Select item 14790068953.

rs1479006895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:4810679 (GRCh38)
12:4919845 (GRCh37)
Canonical SPDI:: NC_000012.12:4810678:G:A,NC_000012.12:4810678:G:C
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.4810679G>A, NC_000012.12:g.4810679G>C, NC_000012.11:g.4919845G>A, NC_000012.11:g.4919845G>C, NM_002235.5:c.638G>A, NM_002235.5:c.638G>C, NM_002235.4:c.638G>A, NM_002235.4:c.638G>C, NM_002235.3:c.638G>A, NM_002235.3:c.638G>C, XM_017019271.2:c.638G>A, XM_017019271.2:c.638G>C, XM_017019271.1:c.638G>A, XM_017019271.1:c.638G>C, XM_017019272.2:c.638G>A, XM_017019272.2:c.638G>C, XM_017019272.1:c.638G>A, XM_017019272.1:c.638G>C, XM_017019270.2:c.638G>A, XM_017019270.2:c.638G>C, XM_017019270.1:c.638G>A, XM_017019270.1:c.638G>C, NR_172523.1:n.1346G>A, NR_172523.1:n.1346G>C, NM_001395212.1:c.638G>A, NM_001395212.1:c.638G>C, NR_172524.1:n.1346G>A, NR_172524.1:n.1346G>C, NM_001395213.1:c.638G>A, NM_001395213.1:c.638G>C, NR_172525.1:n.1346G>A, NR_172525.1:n.1346G>C, NP_002226.1:p.Arg213Gln, NP_002226.1:p.Arg213Pro, XP_016874760.1:p.Arg213Gln, XP_016874760.1:p.Arg213Pro, XP_016874761.1:p.Arg213Gln, XP_016874761.1:p.Arg213Pro, XP_016874759.1:p.Arg213Gln, XP_016874759.1:p.Arg213Pro

Select item 14780249174.

rs1478024917 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4811120 (GRCh38)
12:4920286 (GRCh37)
Canonical SPDI:: NC_000012.12:4811119:A:G
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4811120A>G, NC_000012.11:g.4920286A>G, NM_002235.5:c.1079A>G, NM_002235.4:c.1079A>G, NM_002235.3:c.1079A>G, XM_017019271.2:c.1079A>G, XM_017019271.1:c.1079A>G, XM_017019272.2:c.1079A>G, XM_017019272.1:c.1079A>G, XM_017019270.2:c.1079A>G, XM_017019270.1:c.1079A>G, NR_172523.1:n.1787A>G, NM_001395212.1:c.1079A>G, NR_172524.1:n.1787A>G, NM_001395213.1:c.1079A>G, NR_172525.1:n.1787A>G, NP_002226.1:p.Lys360Arg, XP_016874760.1:p.Lys360Arg, XP_016874761.1:p.Lys360Arg, XP_016874759.1:p.Lys360Arg

Select item 14766643275.

rs1476664327 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:4810144 (GRCh38)
12:4919310 (GRCh37)
Canonical SPDI:: NC_000012.12:4810143:GGGGG:GGGG
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.4810148del, NC_000012.11:g.4919314del, NM_002235.5:c.107del, NM_002235.4:c.107del, NM_002235.3:c.107del, XM_017019271.2:c.107del, XM_017019271.1:c.107del, XM_017019272.2:c.107del, XM_017019272.1:c.107del, XM_017019270.2:c.107del, XM_017019270.1:c.107del, NR_172523.1:n.815del, NM_001395212.1:c.107del, NR_172524.1:n.815del, NM_001395213.1:c.107del, NR_172525.1:n.815del, NP_002226.1:p.Gly36fs, XP_016874760.1:p.Gly36fs, XP_016874761.1:p.Gly36fs, XP_016874759.1:p.Gly36fs

Select item 14765992206.

rs1476599220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:4811003 (GRCh38)
12:4920169 (GRCh37)
Canonical SPDI:: NC_000012.12:4811002:A:C
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00034/4 (ALFA)
C=0./0 (Korea1K)
HGVS:: NC_000012.12:g.4811003A>C, NC_000012.11:g.4920169A>C, NM_002235.5:c.962A>C, NM_002235.4:c.962A>C, NM_002235.3:c.962A>C, XM_017019271.2:c.962A>C, XM_017019271.1:c.962A>C, XM_017019272.2:c.962A>C, XM_017019272.1:c.962A>C, XM_017019270.2:c.962A>C, XM_017019270.1:c.962A>C, NR_172523.1:n.1670A>C, NM_001395212.1:c.962A>C, NR_172524.1:n.1670A>C, NM_001395213.1:c.962A>C, NR_172525.1:n.1670A>C, NP_002226.1:p.Gln321Pro, XP_016874760.1:p.Gln321Pro, XP_016874761.1:p.Gln321Pro, XP_016874759.1:p.Gln321Pro

Select item 14742149127.

rs1474214912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:4811030 (GRCh38)
12:4920196 (GRCh37)
Canonical SPDI:: NC_000012.12:4811029:A:C
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.4811030A>C, NC_000012.11:g.4920196A>C, NM_002235.5:c.989A>C, NM_002235.4:c.989A>C, NM_002235.3:c.989A>C, XM_017019271.2:c.989A>C, XM_017019271.1:c.989A>C, XM_017019272.2:c.989A>C, XM_017019272.1:c.989A>C, XM_017019270.2:c.989A>C, XM_017019270.1:c.989A>C, NR_172523.1:n.1697A>C, NM_001395212.1:c.989A>C, NR_172524.1:n.1697A>C, NM_001395213.1:c.989A>C, NR_172525.1:n.1697A>C, NP_002226.1:p.Gln330Pro, XP_016874760.1:p.Gln330Pro, XP_016874761.1:p.Gln330Pro, XP_016874759.1:p.Gln330Pro

Select item 14735114038.

rs1473511403 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:4810803 (GRCh38)
12:4919970 (GRCh37)
Canonical SPDI:: NC_000012.12:4810803:GGGGG:GGGGGG
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4810808dup, NC_000012.11:g.4919974dup, NM_002235.5:c.767dup, NM_002235.4:c.767dup, NM_002235.3:c.767dup, XM_017019271.2:c.767dup, XM_017019271.1:c.767dup, XM_017019272.2:c.767dup, XM_017019272.1:c.767dup, XM_017019270.2:c.767dup, XM_017019270.1:c.767dup, NR_172523.1:n.1475dup, NM_001395212.1:c.767dup, NR_172524.1:n.1475dup, NM_001395213.1:c.767dup, NR_172525.1:n.1475dup, NP_002226.1:p.Ser257fs, XP_016874760.1:p.Ser257fs, XP_016874761.1:p.Ser257fs, XP_016874759.1:p.Ser257fs

Select item 14729267069.

rs1472926706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:4810757 (GRCh38)
12:4919923 (GRCh37)
Canonical SPDI:: NC_000012.12:4810756:C:A,NC_000012.12:4810756:C:T
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
T=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4810757C>A, NC_000012.12:g.4810757C>T, NC_000012.11:g.4919923C>A, NC_000012.11:g.4919923C>T, NM_002235.5:c.716C>A, NM_002235.5:c.716C>T, NM_002235.4:c.716C>A, NM_002235.4:c.716C>T, NM_002235.3:c.716C>A, NM_002235.3:c.716C>T, XM_017019271.2:c.716C>A, XM_017019271.2:c.716C>T, XM_017019271.1:c.716C>A, XM_017019271.1:c.716C>T, XM_017019272.2:c.716C>A, XM_017019272.2:c.716C>T, XM_017019272.1:c.716C>A, XM_017019272.1:c.716C>T, XM_017019270.2:c.716C>A, XM_017019270.2:c.716C>T, XM_017019270.1:c.716C>A, XM_017019270.1:c.716C>T, NR_172523.1:n.1424C>A, NR_172523.1:n.1424C>T, NM_001395212.1:c.716C>A, NM_001395212.1:c.716C>T, NR_172524.1:n.1424C>A, NR_172524.1:n.1424C>T, NM_001395213.1:c.716C>A, NM_001395213.1:c.716C>T, NR_172525.1:n.1424C>A, NR_172525.1:n.1424C>T, NP_002226.1:p.Thr239Asn, NP_002226.1:p.Thr239Ile, XP_016874760.1:p.Thr239Asn, XP_016874760.1:p.Thr239Ile, XP_016874761.1:p.Thr239Asn, XP_016874761.1:p.Thr239Ile, XP_016874759.1:p.Thr239Asn, XP_016874759.1:p.Thr239Ile

Select item 146935623810.

rs1469356238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:4811053 (GRCh38)
12:4920219 (GRCh37)
Canonical SPDI:: NC_000012.12:4811052:C:T
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4811053C>T, NC_000012.11:g.4920219C>T, NM_002235.5:c.1012C>T, NM_002235.4:c.1012C>T, NM_002235.3:c.1012C>T, XM_017019271.2:c.1012C>T, XM_017019271.1:c.1012C>T, XM_017019272.2:c.1012C>T, XM_017019272.1:c.1012C>T, XM_017019270.2:c.1012C>T, XM_017019270.1:c.1012C>T, NR_172523.1:n.1720C>T, NM_001395212.1:c.1012C>T, NR_172524.1:n.1720C>T, NM_001395213.1:c.1012C>T, NR_172525.1:n.1720C>T

Select item 146932956211.

rs1469329562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:4810073 (GRCh38)
12:4919239 (GRCh37)
Canonical SPDI:: NC_000012.12:4810072:C:T
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.4810073C>T, NC_000012.11:g.4919239C>T, NM_002235.5:c.32C>T, NM_002235.4:c.32C>T, NM_002235.3:c.32C>T, XM_017019271.2:c.32C>T, XM_017019271.1:c.32C>T, XM_017019272.2:c.32C>T, XM_017019272.1:c.32C>T, XM_017019270.2:c.32C>T, XM_017019270.1:c.32C>T, NR_172523.1:n.740C>T, NM_001395212.1:c.32C>T, NR_172524.1:n.740C>T, NM_001395213.1:c.32C>T, NR_172525.1:n.740C>T, NP_002226.1:p.Ala11Val, XP_016874760.1:p.Ala11Val, XP_016874761.1:p.Ala11Val, XP_016874759.1:p.Ala11Val

Select item 146583065512.

rs1465830655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4811420 (GRCh38)
12:4920586 (GRCh37)
Canonical SPDI:: NC_000012.12:4811419:A:G
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4811420A>G, NC_000012.11:g.4920586A>G, NM_002235.5:c.1379A>G, NM_002235.4:c.1379A>G, NM_002235.3:c.1379A>G, XM_017019271.2:c.1379A>G, XM_017019271.1:c.1379A>G, XM_017019272.2:c.1379A>G, XM_017019272.1:c.1379A>G, XM_017019270.2:c.1379A>G, XM_017019270.1:c.1379A>G, NR_172523.1:n.2087A>G, NM_001395212.1:c.1379A>G, NR_172524.1:n.2087A>G, NM_001395213.1:c.1379A>G, NR_172525.1:n.2087A>G, NP_002226.1:p.Asn460Ser, XP_016874760.1:p.Asn460Ser, XP_016874761.1:p.Asn460Ser, XP_016874759.1:p.Asn460Ser

Select item 146531621313.

rs1465316213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4810999 (GRCh38)
12:4920165 (GRCh37)
Canonical SPDI:: NC_000012.12:4810998:G:A
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4810999G>A, NC_000012.11:g.4920165G>A, NM_002235.5:c.958G>A, NM_002235.4:c.958G>A, NM_002235.3:c.958G>A, XM_017019271.2:c.958G>A, XM_017019271.1:c.958G>A, XM_017019272.2:c.958G>A, XM_017019272.1:c.958G>A, XM_017019270.2:c.958G>A, XM_017019270.1:c.958G>A, NR_172523.1:n.1666G>A, NM_001395212.1:c.958G>A, NR_172524.1:n.1666G>A, NM_001395213.1:c.958G>A, NR_172525.1:n.1666G>A, NP_002226.1:p.Glu320Lys, XP_016874760.1:p.Glu320Lys, XP_016874761.1:p.Glu320Lys, XP_016874759.1:p.Glu320Lys

Select item 146374842914.

rs1463748429 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:4811553 (GRCh38)
12:4920719 (GRCh37)
Canonical SPDI:: NC_000012.12:4811552:T:A
Gene:: KCNA6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.4811553T>A, NC_000012.11:g.4920719T>A, NM_002235.5:c.1512T>A, NM_002235.4:c.1512T>A, NM_002235.3:c.1512T>A, XM_017019271.2:c.1512T>A, XM_017019271.1:c.1512T>A, XM_017019272.2:c.1512T>A, XM_017019272.1:c.1512T>A, XM_017019270.2:c.1512T>A, XM_017019270.1:c.1512T>A, NR_172523.1:n.2220T>A, NM_001395212.1:c.1512T>A, NR_172524.1:n.2220T>A, NM_001395213.1:c.1512T>A, NR_172525.1:n.2220T>A

Select item 146077479215.

rs1460774792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4810484 (GRCh38)
12:4919650 (GRCh37)
Canonical SPDI:: NC_000012.12:4810483:A:G
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4810484A>G, NC_000012.11:g.4919650A>G, NM_002235.5:c.443A>G, NM_002235.4:c.443A>G, NM_002235.3:c.443A>G, XM_017019271.2:c.443A>G, XM_017019271.1:c.443A>G, XM_017019272.2:c.443A>G, XM_017019272.1:c.443A>G, XM_017019270.2:c.443A>G, XM_017019270.1:c.443A>G, NR_172523.1:n.1151A>G, NM_001395212.1:c.443A>G, NR_172524.1:n.1151A>G, NM_001395213.1:c.443A>G, NR_172525.1:n.1151A>G, NP_002226.1:p.Glu148Gly, XP_016874760.1:p.Glu148Gly, XP_016874761.1:p.Glu148Gly, XP_016874759.1:p.Glu148Gly

Select item 145733401116.

rs1457334011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4811622 (GRCh38)
12:4920788 (GRCh37)
Canonical SPDI:: NC_000012.12:4811621:G:A
Gene:: KCNA6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.4811622G>A, NC_000012.11:g.4920788G>A, NM_002235.5:c.1581G>A, NM_002235.4:c.1581G>A, NM_002235.3:c.1581G>A, XM_017019271.2:c.1581G>A, XM_017019271.1:c.1581G>A, XM_017019272.2:c.1581G>A, XM_017019272.1:c.1581G>A, XM_017019270.2:c.1581G>A, XM_017019270.1:c.1581G>A, NR_172523.1:n.2289G>A, NM_001395212.1:c.1581G>A, NR_172524.1:n.2289G>A, NM_001395213.1:c.1581G>A, NR_172525.1:n.2289G>A

Select item 145730954217.

rs1457309542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4810282 (GRCh38)
12:4919448 (GRCh37)
Canonical SPDI:: NC_000012.12:4810281:A:G
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000012.12:g.4810282A>G, NC_000012.11:g.4919448A>G, NM_002235.5:c.241A>G, NM_002235.4:c.241A>G, NM_002235.3:c.241A>G, XM_017019271.2:c.241A>G, XM_017019271.1:c.241A>G, XM_017019272.2:c.241A>G, XM_017019272.1:c.241A>G, XM_017019270.2:c.241A>G, XM_017019270.1:c.241A>G, NR_172523.1:n.949A>G, NM_001395212.1:c.241A>G, NR_172524.1:n.949A>G, NM_001395213.1:c.241A>G, NR_172525.1:n.949A>G, NP_002226.1:p.Arg81Gly, XP_016874760.1:p.Arg81Gly, XP_016874761.1:p.Arg81Gly, XP_016874759.1:p.Arg81Gly

Select item 145706561818.

rs1457065618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:4810941 (GRCh38)
12:4920107 (GRCh37)
Canonical SPDI:: NC_000012.12:4810940:C:T
Gene:: KCNA6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_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_000012.12:g.4810941C>T, NC_000012.11:g.4920107C>T, NM_002235.5:c.900C>T, NM_002235.4:c.900C>T, NM_002235.3:c.900C>T, XM_017019271.2:c.900C>T, XM_017019271.1:c.900C>T, XM_017019272.2:c.900C>T, XM_017019272.1:c.900C>T, XM_017019270.2:c.900C>T, XM_017019270.1:c.900C>T, NR_172523.1:n.1608C>T, NM_001395212.1:c.900C>T, NR_172524.1:n.1608C>T, NM_001395213.1:c.900C>T, NR_172525.1:n.1608C>T

Select item 145423157619.

rs1454231576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4810474 (GRCh38)
12:4919640 (GRCh37)
Canonical SPDI:: NC_000012.12:4810473:G:A
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4810474G>A, NC_000012.11:g.4919640G>A, NM_002235.5:c.433G>A, NM_002235.4:c.433G>A, NM_002235.3:c.433G>A, XM_017019271.2:c.433G>A, XM_017019271.1:c.433G>A, XM_017019272.2:c.433G>A, XM_017019272.1:c.433G>A, XM_017019270.2:c.433G>A, XM_017019270.1:c.433G>A, NR_172523.1:n.1141G>A, NM_001395212.1:c.433G>A, NR_172524.1:n.1141G>A, NM_001395213.1:c.433G>A, NR_172525.1:n.1141G>A, NP_002226.1:p.Gly145Ser, XP_016874760.1:p.Gly145Ser, XP_016874761.1:p.Gly145Ser, XP_016874759.1:p.Gly145Ser

Select item 145326512920.

rs1453265129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:4811100 (GRCh38)
12:4920266 (GRCh37)
Canonical SPDI:: NC_000012.12:4811099:C:G
Gene:: KCNA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4811100C>G, NC_000012.11:g.4920266C>G, NM_002235.5:c.1059C>G, NM_002235.4:c.1059C>G, NM_002235.3:c.1059C>G, XM_017019271.2:c.1059C>G, XM_017019271.1:c.1059C>G, XM_017019272.2:c.1059C>G, XM_017019272.1:c.1059C>G, XM_017019270.2:c.1059C>G, XM_017019270.1:c.1059C>G, NR_172523.1:n.1767C>G, NM_001395212.1:c.1059C>G, NR_172524.1:n.1767C>G, NM_001395213.1:c.1059C>G, NR_172525.1:n.1767C>G, NP_002226.1:p.Phe353Leu, XP_016874760.1:p.Phe353Leu, XP_016874761.1:p.Phe353Leu, XP_016874759.1:p.Phe353Leu

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 445

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity