Canonical Allele Identifier: CA383454756
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1947354376
gnomAD v4: 12-4911904-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911904G>T , CM000674.2:g.4911904G>T GRCh38
NC_000012.11:g.5021070G>T , CM000674.1:g.5021070G>T GRCh37
NC_000012.10:g.4891331G>T NCBI36
NG_011815.1:g.6998G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.526G>T MANE Select ENSP00000371985.3:p.Val176Phe
ENST00000543874.3:n.105+1432G>T
ENST00000639306.1:c.364G>T ENSP00000492506.1:p.Val122Phe
ENST00000382545.3:c.526G>T ENSP00000371985.3:p.Val176Phe
ENST00000541095.1:n.105+1432G>T
ENST00000543874.2:n.96+1432G>T
NM_000217.2:c.526G>T NP_000208.2:p.Val176Phe
NM_000217.3:c.526G>T MANE Select NP_000208.2:p.Val176Phe