Canonical Allele Identifier: CA383454915
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 835844
ClinVar RCV Id: RCV001036830
dbSNP Id: rs1207573200
gnomAD v2: 12-5021140-C-T
gnomAD v4: 12-4911974-C-T
COSMIC: COSM4042547
MyVariant Identifiers: chr12:g.5021140C>T (hg19) chr12:g.4911974C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911974C>T , CM000674.2:g.4911974C>T GRCh38
NC_000012.11:g.5021140C>T , CM000674.1:g.5021140C>T GRCh37
NC_000012.10:g.4891401C>T NCBI36
NG_011815.1:g.7068C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.596C>T MANE Select ENSP00000371985.3:p.Thr199Met
ENST00000543874.3:n.105+1502C>T
ENST00000639306.1:c.434C>T ENSP00000492506.1:p.Thr145Met
ENST00000382545.3:c.596C>T ENSP00000371985.3:p.Thr199Met
ENST00000541095.1:n.105+1502C>T
ENST00000543874.2:n.96+1502C>T
NM_000217.2:c.596C>T NP_000208.2:p.Thr199Met
NM_000217.3:c.596C>T MANE Select NP_000208.2:p.Thr199Met
Search 100 bp 5'
Search 100 bp 3'