Canonical Allele Identifier: CA369852597

Gene: KCNH2

Linked Data

• dbSNP Id: rs1460890169
• gnomAD v2: 7-150644453-C-T
• gnomAD v4: 7-150947365-C-T
• MyVariant Identifiers: chr7:g.150644453C>T (hg19) ; chr7:g.150947365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947365C>T , CM000669.2:g.150947365C>T	GRCh38
NC_000007.13:g.150644453C>T , CM000669.1:g.150644453C>T	GRCh37
NC_000007.12:g.150275386C>T	NCBI36
NG_008916.1:g.35562G>A , LRG_288:g.35562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3948G>A
ENST00000262186.10:c.3115G>A MANE Select	ENSP00000262186.5:p.Glu1039Lys
ENST00000330883.9:c.2095G>A	ENSP00000328531.4:p.Glu699Lys
ENST00000262186.9:c.3115G>A	ENSP00000262186.5:p.Glu1039Lys
ENST00000330883.8:c.2095G>A	ENSP00000328531.4:p.Glu699Lys
NM_000238.3:c.3115G>A , LRG_288t1:c.3115G>A	NP_000229.1:p.Glu1039Lys
NM_172057.2:c.2095G>A , LRG_288t3:c.2095G>A	NP_742054.1:p.Glu699Lys
XM_011516185.1:c.2815G>A	XP_011514487.1:p.Glu939Lys
XM_011516185.2:c.2815G>A	XP_011514487.1:p.Glu939Lys
XM_017012195.1:c.2965G>A	XP_016867684.1:p.Glu989Lys
XM_017012196.1:c.2938G>A	XP_016867685.1:p.Glu980Lys
NM_000238.4:c.3115G>A MANE Select	NP_000229.1:p.Glu1039Lys
NM_172057.3:c.2095G>A	NP_742054.1:p.Glu699Lys