Canonical Allele Identifier: CA383465021

Gene: KCNA5

Linked Data

• dbSNP Id: rs1862755221
• gnomAD v3: 12-5044868-G-A
• gnomAD v4: 12-5044868-G-A
• MyVariant Identifiers: chr12:g.5154034G>A (hg19) ; chr12:g.5044868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044868G>A , CM000674.2:g.5044868G>A	GRCh38
NC_000012.11:g.5154034G>A , CM000674.1:g.5154034G>A	GRCh37
NC_000012.10:g.5024295G>A	NCBI36
NG_012198.1:g.5950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.721G>A MANE Select	ENSP00000252321.3:p.Glu241Lys
ENST00000252321.4:c.721G>A	ENSP00000252321.3:p.Glu241Lys
NM_002234.3:c.721G>A	NP_002225.2:p.Glu241Lys
NM_002234.4:c.721G>A MANE Select	NP_002225.2:p.Glu241Lys