Canonical Allele Identifier: CA383455560
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 966172
ClinVar RCV Id: RCV001240784
dbSNP Id: rs1315748120
MyVariant Identifiers: chr12:g.5021432G>C (hg19) chr12:g.4912266G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912266G>C , CM000674.2:g.4912266G>C GRCh38
NC_000012.11:g.5021432G>C , CM000674.1:g.5021432G>C GRCh37
NC_000012.10:g.4891693G>C NCBI36
NG_011815.1:g.7360G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.888G>C MANE Select ENSP00000371985.3:p.Leu296Phe
ENST00000543874.3:n.105+1794G>C
ENST00000639306.1:c.726G>C ENSP00000492506.1:p.Leu242Phe
ENST00000639680.1:c.76G>C
ENST00000382545.3:c.888G>C ENSP00000371985.3:p.Leu296Phe
ENST00000541095.1:n.105+1794G>C
ENST00000543874.2:n.96+1794G>C
NM_000217.2:c.888G>C NP_000208.2:p.Leu296Phe
NM_000217.3:c.888G>C MANE Select NP_000208.2:p.Leu296Phe
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