Canonical Allele Identifier: CA383465304

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 2144001
• ClinVar RCV Id: RCV003068168
• gnomAD v4: 12-5045007-C-A
• MyVariant Identifiers: chr12:g.5154173C>A (hg19) ; chr12:g.5045007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045007C>A , CM000674.2:g.5045007C>A	GRCh38
NC_000012.11:g.5154173C>A , CM000674.1:g.5154173C>A	GRCh37
NC_000012.10:g.5024434C>A	NCBI36
NG_012198.1:g.6089C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.860C>A MANE Select	ENSP00000252321.3:p.Ala287Glu
ENST00000252321.4:c.860C>A	ENSP00000252321.3:p.Ala287Glu
NM_002234.3:c.860C>A	NP_002225.2:p.Ala287Glu
NM_002234.4:c.860C>A MANE Select	NP_002225.2:p.Ala287Glu