Canonical Allele Identifier: CA6399742

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 2713860
• ClinVar RCV Id: RCV003515762
• dbSNP Id: rs775137906
• ExAC: 12:5154195 C / A
• gnomAD v2: 12-5154195-C-A
• gnomAD v3: 12-5045029-C-A
• gnomAD v4: 12-5045029-C-A
• MyVariant Identifiers: chr12:g.5154195C>A (hg19) ; chr12:g.5045029C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045029C>A , CM000674.2:g.5045029C>A	GRCh38
NC_000012.11:g.5154195C>A , CM000674.1:g.5154195C>A	GRCh37
NC_000012.10:g.5024456C>A	NCBI36
NG_012198.1:g.6111C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.882C>A MANE Select	ENSP00000252321.3:p.Pro294=
ENST00000252321.4:c.882C>A	ENSP00000252321.3:p.Pro294=
NM_002234.3:c.882C>A	NP_002225.2:p.Pro294=
NM_002234.4:c.882C>A MANE Select	NP_002225.2:p.Pro294=