Canonical Allele Identifier: CA383464690

Gene: KCNA5

Linked Data

• dbSNP Id: rs1408883560
• gnomAD v2: 12-5153876-C-A
• gnomAD v4: 12-5044710-C-A
• MyVariant Identifiers: chr12:g.5153876C>A (hg19) ; chr12:g.5044710C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044710C>A , CM000674.2:g.5044710C>A	GRCh38
NC_000012.11:g.5153876C>A , CM000674.1:g.5153876C>A	GRCh37
NC_000012.10:g.5024137C>A	NCBI36
NG_012198.1:g.5792C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.563C>A MANE Select	ENSP00000252321.3:p.Pro188Gln
ENST00000252321.4:c.563C>A	ENSP00000252321.3:p.Pro188Gln
NM_002234.3:c.563C>A	NP_002225.2:p.Pro188Gln
NM_002234.4:c.563C>A MANE Select	NP_002225.2:p.Pro188Gln