Canonical Allele Identifier: CA383462139

Gene: KCNA5

Linked Data

• dbSNP Id: rs1389494243
• gnomAD v2: 12-5153540-G-A
• gnomAD v4: 12-5044374-G-A
• MyVariant Identifiers: chr12:g.5153540G>A (hg19) ; chr12:g.5044374G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044374G>A , CM000674.2:g.5044374G>A	GRCh38
NC_000012.11:g.5153540G>A , CM000674.1:g.5153540G>A	GRCh37
NC_000012.10:g.5023801G>A	NCBI36
NG_012198.1:g.5456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.227G>A MANE Select	ENSP00000252321.3:p.Arg76Gln
ENST00000252321.4:c.227G>A	ENSP00000252321.3:p.Arg76Gln
NM_002234.3:c.227G>A	NP_002225.2:p.Arg76Gln
NM_002234.4:c.227G>A MANE Select	NP_002225.2:p.Arg76Gln