Canonical Allele Identifier: CA383454969
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4912000-A-C
MyVariant Identifiers: chr12:g.5021166A>C (hg19) chr12:g.4912000A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912000A>C , CM000674.2:g.4912000A>C GRCh38
NC_000012.11:g.5021166A>C , CM000674.1:g.5021166A>C GRCh37
NC_000012.10:g.4891427A>C NCBI36
NG_011815.1:g.7094A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.622A>C MANE Select ENSP00000371985.3:p.Thr208Pro
ENST00000543874.3:n.105+1528A>C
ENST00000639306.1:c.460A>C ENSP00000492506.1:p.Thr154Pro
ENST00000382545.3:c.622A>C ENSP00000371985.3:p.Thr208Pro
ENST00000541095.1:n.105+1528A>C
ENST00000543874.2:n.96+1528A>C
NM_000217.2:c.622A>C NP_000208.2:p.Thr208Pro
NM_000217.3:c.622A>C MANE Select NP_000208.2:p.Thr208Pro
Search 100 bp 5'
Search 100 bp 3'