Canonical Allele Identifier: CA383454792
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1947354431
gnomAD v3: 12-4911921-C-G
gnomAD v4: 12-4911921-C-G
MyVariant Identifiers: chr12:g.5021087C>G (hg19) chr12:g.4911921C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911921C>G , CM000674.2:g.4911921C>G GRCh38
NC_000012.11:g.5021087C>G , CM000674.1:g.5021087C>G GRCh37
NC_000012.10:g.4891348C>G NCBI36
NG_011815.1:g.7015C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.543C>G MANE Select ENSP00000371985.3:p.Ile181Met
ENST00000543874.3:n.105+1449C>G
ENST00000639306.1:c.381C>G ENSP00000492506.1:p.Ile127Met
ENST00000382545.3:c.543C>G ENSP00000371985.3:p.Ile181Met
ENST00000541095.1:n.105+1449C>G
ENST00000543874.2:n.96+1449C>G
NM_000217.2:c.543C>G NP_000208.2:p.Ile181Met
NM_000217.3:c.543C>G MANE Select NP_000208.2:p.Ile181Met
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