Canonical Allele Identifier: CA6399557

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 309334
• ClinVar RCV Id: RCV000533761
• dbSNP Id: rs376660949
• ExAC: 12:5153493 G / A
• gnomAD v2: 12-5153493-G-A
• gnomAD v3: 12-5044327-G-A
• gnomAD v4: 12-5044327-G-A
• MyVariant Identifiers: chr12:g.5153493G>A (hg19) ; chr12:g.5044327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044327G>A , CM000674.2:g.5044327G>A	GRCh38
NC_000012.11:g.5153493G>A , CM000674.1:g.5153493G>A	GRCh37
NC_000012.10:g.5023754G>A	NCBI36
NG_012198.1:g.5409G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.180G>A MANE Select	ENSP00000252321.3:p.Ala60=
ENST00000252321.4:c.180G>A	ENSP00000252321.3:p.Ala60=
NM_002234.3:c.180G>A	NP_002225.2:p.Ala60=
NM_002234.4:c.180G>A MANE Select	NP_002225.2:p.Ala60=