Canonical Allele Identifier: CA231856236
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2156897
ClinVar RCV Id: RCV003075701
dbSNP Id: rs971990578
gnomAD v2: 12-5021804-G-C
gnomAD v3: 12-4912638-G-C
gnomAD v4: 12-4912638-G-C
MyVariant Identifiers: chr12:g.5021804G>C (hg19) chr12:g.4912638G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912638G>C , CM000674.2:g.4912638G>C GRCh38
NC_000012.11:g.5021804G>C , CM000674.1:g.5021804G>C GRCh37
NC_000012.10:g.4892065G>C NCBI36
NG_011815.1:g.7732G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1260G>C MANE Select ENSP00000371985.3:p.Glu420Asp
ENST00000543874.3:n.105+2166G>C
ENST00000639306.1:c.1098G>C ENSP00000492506.1:p.Glu366Asp
ENST00000639680.1:c.76+372G>C
ENST00000382545.3:c.1260G>C ENSP00000371985.3:p.Glu420Asp
ENST00000541095.1:n.105+2166G>C
ENST00000543874.2:n.96+2166G>C
NM_000217.2:c.1260G>C NP_000208.2:p.Glu420Asp
NM_000217.3:c.1260G>C MANE Select NP_000208.2:p.Glu420Asp
Search 100 bp 5'
Search 100 bp 3'