Canonical Allele Identifier: CA383462025
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2098473
ClinVar RCV Id: RCV003030967
dbSNP Id: rs763338488
gnomAD v2: 12-5153479-G-T
gnomAD v3: 12-5044313-G-T
gnomAD v4: 12-5044313-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044313G>T , CM000674.2:g.5044313G>T GRCh38
NC_000012.11:g.5153479G>T , CM000674.1:g.5153479G>T GRCh37
NC_000012.10:g.5023740G>T NCBI36
NG_012198.1:g.5395G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.166G>T MANE Select ENSP00000252321.3:p.Ala56Ser
ENST00000252321.4:c.166G>T ENSP00000252321.3:p.Ala56Ser
NM_002234.3:c.166G>T NP_002225.2:p.Ala56Ser
NM_002234.4:c.166G>T MANE Select NP_002225.2:p.Ala56Ser