Canonical Allele Identifier: CA383464793

Gene: KCNA5

Linked Data

• COSMIC: COSM3688260
• MyVariant Identifiers: chr12:g.5153926C>G (hg19) ; chr12:g.5044760C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044760C>G , CM000674.2:g.5044760C>G	GRCh38
NC_000012.11:g.5153926C>G , CM000674.1:g.5153926C>G	GRCh37
NC_000012.10:g.5024187C>G	NCBI36
NG_012198.1:g.5842C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.613C>G MANE Select	ENSP00000252321.3:p.Leu205Val
ENST00000252321.4:c.613C>G	ENSP00000252321.3:p.Leu205Val
NM_002234.3:c.613C>G	NP_002225.2:p.Leu205Val
NM_002234.4:c.613C>G MANE Select	NP_002225.2:p.Leu205Val