Canonical Allele Identifier: CA478094938
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1947358685
gnomAD v3: 12-4912572-A-G
gnomAD v4: 12-4912572-A-G
COSMIC: COSM2008501
MyVariant Identifiers: chr12:g.5021738A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912572A>G , CM000674.2:g.4912572A>G GRCh38
NC_000012.11:g.5021738A>G , CM000674.1:g.5021738A>G GRCh37
NC_000012.10:g.4891999A>G NCBI36
NG_011815.1:g.7666A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1194A>G MANE Select ENSP00000371985.3:p.Leu398=
ENST00000543874.3:n.105+2100A>G
ENST00000639306.1:c.1032A>G ENSP00000492506.1:p.Leu344=
ENST00000639680.1:c.76+306A>G
ENST00000382545.3:c.1194A>G ENSP00000371985.3:p.Leu398=
ENST00000541095.1:n.105+2100A>G
ENST00000543874.2:n.96+2100A>G
NM_000217.2:c.1194A>G NP_000208.2:p.Leu398=
NM_000217.3:c.1194A>G MANE Select NP_000208.2:p.Leu398=
Search 100 bp 5'
Search 100 bp 3'