Canonical Allele Identifier: CA383464736

Gene: KCNA5

Linked Data

• MyVariant Identifiers: chr12:g.5153900T>G (hg19) ; chr12:g.5044734T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044734T>G , CM000674.2:g.5044734T>G	GRCh38
NC_000012.11:g.5153900T>G , CM000674.1:g.5153900T>G	GRCh37
NC_000012.10:g.5024161T>G	NCBI36
NG_012198.1:g.5816T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.587T>G MANE Select	ENSP00000252321.3:p.Phe196Cys
ENST00000252321.4:c.587T>G	ENSP00000252321.3:p.Phe196Cys
NM_002234.3:c.587T>G	NP_002225.2:p.Phe196Cys
NM_002234.4:c.587T>G MANE Select	NP_002225.2:p.Phe196Cys