Canonical Allele Identifier: CA383462028
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2671706
ClinVar RCV Id: RCV003448791
dbSNP Id: rs1189244051
gnomAD v2: 12-5153480-C-T
gnomAD v4: 12-5044314-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044314C>T , CM000674.2:g.5044314C>T GRCh38
NC_000012.11:g.5153480C>T , CM000674.1:g.5153480C>T GRCh37
NC_000012.10:g.5023741C>T NCBI36
NG_012198.1:g.5396C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.167C>T MANE Select ENSP00000252321.3:p.Ala56Val
ENST00000252321.4:c.167C>T ENSP00000252321.3:p.Ala56Val
NM_002234.3:c.167C>T NP_002225.2:p.Ala56Val
NM_002234.4:c.167C>T MANE Select NP_002225.2:p.Ala56Val