Canonical Allele Identifier: CA383465073

Gene: KCNA5

Linked Data

• dbSNP Id: rs1862755620
• gnomAD v3: 12-5044892-G-A
• gnomAD v4: 12-5044892-G-A
• MyVariant Identifiers: chr12:g.5154058G>A (hg19) ; chr12:g.5044892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044892G>A , CM000674.2:g.5044892G>A	GRCh38
NC_000012.11:g.5154058G>A , CM000674.1:g.5154058G>A	GRCh37
NC_000012.10:g.5024319G>A	NCBI36
NG_012198.1:g.5974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.745G>A MANE Select	ENSP00000252321.3:p.Ala249Thr
ENST00000252321.4:c.745G>A	ENSP00000252321.3:p.Ala249Thr
NM_002234.3:c.745G>A	NP_002225.2:p.Ala249Thr
NM_002234.4:c.745G>A MANE Select	NP_002225.2:p.Ala249Thr