Canonical Allele Identifier: CA169081346

Gene: KCNH2

Linked Data

• dbSNP Id: rs867114073
• gnomAD v4: 7-150958298-C-T
• MyVariant Identifiers: chr7:g.150655386C>T (hg19) ; chr7:g.150958298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958298C>T , CM000669.2:g.150958298C>T	GRCh38
NC_000007.13:g.150655386C>T , CM000669.1:g.150655386C>T	GRCh37
NC_000007.12:g.150286319C>T	NCBI36
NG_008916.1:g.24629G>A , LRG_288:g.24629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1510G>A
ENST00000262186.10:c.677G>A MANE Select	ENSP00000262186.5:p.Gly226Glu
ENST00000262186.9:c.677G>A	ENSP00000262186.5:p.Gly226Glu
ENST00000430723.4:c.329G>A	ENSP00000387657.4:p.Gly110Glu
ENST00000532957.5:n.900G>A
NM_000238.3:c.677G>A , LRG_288t1:c.677G>A	NP_000229.1:p.Gly226Glu
NM_172056.2:c.677G>A , LRG_288t2:c.677G>A	NP_742053.1:p.Gly226Glu
XM_011516185.1:c.377G>A	XP_011514487.1:p.Gly126Glu
XM_011516186.1:c.677G>A	XP_011514488.1:p.Gly226Glu
XM_011516185.2:c.377G>A	XP_011514487.1:p.Gly126Glu
XM_011516186.3:c.677G>A	XP_011514488.1:p.Gly226Glu
XM_017012195.1:c.527G>A	XP_016867684.1:p.Gly176Glu
XM_017012196.1:c.500G>A	XP_016867685.1:p.Gly167Glu
NM_000238.4:c.677G>A MANE Select	NP_000229.1:p.Gly226Glu