Canonical Allele Identifier: CA383461975

Gene: KCNA5

Linked Data

• dbSNP Id: rs886049573
• gnomAD v2: 12-5153453-A-C
• gnomAD v4: 12-5044287-A-C
• MyVariant Identifiers: chr12:g.5153453A>C (hg19) ; chr12:g.5044287A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044287A>C , CM000674.2:g.5044287A>C	GRCh38
NC_000012.11:g.5153453A>C , CM000674.1:g.5153453A>C	GRCh37
NC_000012.10:g.5023714A>C	NCBI36
NG_012198.1:g.5369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.140A>C MANE Select	ENSP00000252321.3:p.Lys47Thr
ENST00000252321.4:c.140A>C	ENSP00000252321.3:p.Lys47Thr
NM_002234.3:c.140A>C	NP_002225.2:p.Lys47Thr
NM_002234.4:c.140A>C MANE Select	NP_002225.2:p.Lys47Thr