Canonical Allele Identifier: CA383454895
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4911967-G-A
MyVariant Identifiers: chr12:g.5021133G>A (hg19) chr12:g.4911967G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911967G>A , CM000674.2:g.4911967G>A GRCh38
NC_000012.11:g.5021133G>A , CM000674.1:g.5021133G>A GRCh37
NC_000012.10:g.4891394G>A NCBI36
NG_011815.1:g.7061G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.589G>A MANE Select ENSP00000371985.3:p.Asp197Asn
ENST00000543874.3:n.105+1495G>A
ENST00000639306.1:c.427G>A ENSP00000492506.1:p.Asp143Asn
ENST00000382545.3:c.589G>A ENSP00000371985.3:p.Asp197Asn
ENST00000541095.1:n.105+1495G>A
ENST00000543874.2:n.96+1495G>A
NM_000217.2:c.589G>A NP_000208.2:p.Asp197Asn
NM_000217.3:c.589G>A MANE Select NP_000208.2:p.Asp197Asn
Search 100 bp 5'
Search 100 bp 3'