Canonical Allele Identifier: CA383454489
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1463239
ClinVar RCV Id: RCV001956582
dbSNP Id: rs1947353268
gnomAD v3: 12-4911782-G-C
gnomAD v4: 12-4911782-G-C
MyVariant Identifiers: chr12:g.5020948G>C (hg19) chr12:g.4911782G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911782G>C , CM000674.2:g.4911782G>C GRCh38
NC_000012.11:g.5020948G>C , CM000674.1:g.5020948G>C GRCh37
NC_000012.10:g.4891209G>C NCBI36
NG_011815.1:g.6876G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.404G>C MANE Select ENSP00000371985.3:p.Gly135Ala
ENST00000543874.3:n.105+1310G>C
ENST00000639306.1:c.242G>C ENSP00000492506.1:p.Gly81Ala
ENST00000382545.3:c.404G>C ENSP00000371985.3:p.Gly135Ala
ENST00000541095.1:n.105+1310G>C
ENST00000543874.2:n.96+1310G>C
NM_000217.2:c.404G>C NP_000208.2:p.Gly135Ala
NM_000217.3:c.404G>C MANE Select NP_000208.2:p.Gly135Ala
Search 100 bp 5'
Search 100 bp 3'