Canonical Allele Identifier: CA383462054

Gene: KCNA5

Linked Data

• dbSNP Id: rs1383675030
• gnomAD v2: 12-5153492-C-T
• gnomAD v4: 12-5044326-C-T
• MyVariant Identifiers: chr12:g.5153492C>T (hg19) ; chr12:g.5044326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044326C>T , CM000674.2:g.5044326C>T	GRCh38
NC_000012.11:g.5153492C>T , CM000674.1:g.5153492C>T	GRCh37
NC_000012.10:g.5023753C>T	NCBI36
NG_012198.1:g.5408C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.179C>T MANE Select	ENSP00000252321.3:p.Ala60Val
ENST00000252321.4:c.179C>T	ENSP00000252321.3:p.Ala60Val
NM_002234.3:c.179C>T	NP_002225.2:p.Ala60Val
NM_002234.4:c.179C>T MANE Select	NP_002225.2:p.Ala60Val