Canonical Allele Identifier: CA383461756

Gene: KCNA5

Linked Data

• dbSNP Id: rs1351964482
• gnomAD v2: 12-5153343-C-G
• gnomAD v4: 12-5044177-C-G
• MyVariant Identifiers: chr12:g.5153343C>G (hg19) ; chr12:g.5044177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044177C>G , CM000674.2:g.5044177C>G	GRCh38
NC_000012.11:g.5153343C>G , CM000674.1:g.5153343C>G	GRCh37
NC_000012.10:g.5023604C>G	NCBI36
NG_012198.1:g.5259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.30C>G MANE Select	ENSP00000252321.3:p.Asn10Lys
ENST00000252321.4:c.30C>G	ENSP00000252321.3:p.Asn10Lys
NM_002234.3:c.30C>G	NP_002225.2:p.Asn10Lys
NM_002234.4:c.30C>G MANE Select	NP_002225.2:p.Asn10Lys