Canonical Allele Identifier: CA6399738

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 723489
• ClinVar RCV Id: RCV000897252 ; RCV002539454
• dbSNP Id: rs144246051
• ExAC: 12:5154173 C / T
• gnomAD v2: 12-5154173-C-T
• gnomAD v3: 12-5045007-C-T
• gnomAD v4: 12-5045007-C-T
• COSMIC: COSM4042654
• MyVariant Identifiers: chr12:g.5154173C>T (hg19) ; chr12:g.5045007C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.860C>T MANE Select	ENSP00000252321.3:p.Ala287Val
ENST00000252321.4:c.860C>T	ENSP00000252321.3:p.Ala287Val
NM_002234.3:c.860C>T	NP_002225.2:p.Ala287Val
NM_002234.4:c.860C>T MANE Select	NP_002225.2:p.Ala287Val