Canonical Allele Identifier: CA383455991
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1205933159
gnomAD v2: 12-5021623-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912457C>T , CM000674.2:g.4912457C>T GRCh38
NC_000012.11:g.5021623C>T , CM000674.1:g.5021623C>T GRCh37
NC_000012.10:g.4891884C>T NCBI36
NG_011815.1:g.7551C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1079C>T MANE Select ENSP00000371985.3:p.Pro360Leu
ENST00000543874.3:n.105+1985C>T
ENST00000639306.1:c.917C>T ENSP00000492506.1:p.Pro306Leu
ENST00000639680.1:c.76+191C>T
ENST00000382545.3:c.1079C>T ENSP00000371985.3:p.Pro360Leu
ENST00000541095.1:n.105+1985C>T
ENST00000543874.2:n.96+1985C>T
NM_000217.2:c.1079C>T NP_000208.2:p.Pro360Leu
NM_000217.3:c.1079C>T MANE Select NP_000208.2:p.Pro360Leu