Canonical Allele Identifier: CA478094210
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1140720
ClinVar RCV Id: RCV001477907
dbSNP Id: rs1378300372
gnomAD v2: 12-5021051-C-T
gnomAD v3: 12-4911885-C-T
gnomAD v4: 12-4911885-C-T
MyVariant Identifiers: chr12:g.5021051C>T (hg19) chr12:g.4911885C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911885C>T , CM000674.2:g.4911885C>T GRCh38
NC_000012.11:g.5021051C>T , CM000674.1:g.5021051C>T GRCh37
NC_000012.10:g.4891312C>T NCBI36
NG_011815.1:g.6979C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.507C>T MANE Select ENSP00000371985.3:p.Ile169=
ENST00000543874.3:n.105+1413C>T
ENST00000639306.1:c.345C>T ENSP00000492506.1:p.Ile115=
ENST00000382545.3:c.507C>T ENSP00000371985.3:p.Ile169=
ENST00000541095.1:n.105+1413C>T
ENST00000543874.2:n.96+1413C>T
NM_000217.2:c.507C>T NP_000208.2:p.Ile169=
NM_000217.3:c.507C>T MANE Select NP_000208.2:p.Ile169=
Search 100 bp 5'
Search 100 bp 3'