Canonical Allele Identifier: CA383465877

Gene: KCNA5

Linked Data

• dbSNP Id: rs759535856
• gnomAD v2: 12-5154461-G-T
• gnomAD v4: 12-5045295-G-T
• MyVariant Identifiers: chr12:g.5154461G>T (hg19) ; chr12:g.5045295G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045295G>T , CM000674.2:g.5045295G>T	GRCh38
NC_000012.11:g.5154461G>T , CM000674.1:g.5154461G>T	GRCh37
NC_000012.10:g.5024722G>T	NCBI36
NG_012198.1:g.6377G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.1148G>T MANE Select	ENSP00000252321.3:p.Gly383Val
ENST00000252321.4:c.1148G>T	ENSP00000252321.3:p.Gly383Val
NM_002234.3:c.1148G>T	NP_002225.2:p.Gly383Val
NM_002234.4:c.1148G>T MANE Select	NP_002225.2:p.Gly383Val