Canonical Allele Identifier: CA031382

Gene: KCNH2

Linked Data

• dbSNP Id: rs189014161
• ExAC: 7:150647424 G / T
• gnomAD v2: 7-150647424-G-T
• gnomAD v4: 7-150950336-G-T
• MyVariant Identifiers: chr7:g.150647424G>T (hg19) ; chr7:g.150950336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950336G>T , CM000669.2:g.150950336G>T	GRCh38
NC_000007.13:g.150647424G>T , CM000669.1:g.150647424G>T	GRCh37
NC_000007.12:g.150278357G>T	NCBI36
NG_008916.1:g.32591C>A , LRG_288:g.32591C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1528C>A
ENST00000684241.1:n.3063C>A
ENST00000262186.10:c.2230C>A MANE Select	ENSP00000262186.5:p.Arg744=
ENST00000330883.9:c.1210C>A	ENSP00000328531.4:p.Arg404=
ENST00000262186.9:c.2230C>A	ENSP00000262186.5:p.Arg744=
ENST00000330883.8:c.1210C>A	ENSP00000328531.4:p.Arg404=
ENST00000430723.4:c.1882C>A	ENSP00000387657.4:p.Arg628=
ENST00000461280.1:n.1517C>A
ENST00000473610.5:n.1862C>A
ENST00000532957.5:n.2453C>A
NM_000238.3:c.2230C>A , LRG_288t1:c.2230C>A	NP_000229.1:p.Arg744=
NM_001204798.1:c.1210C>A	NP_001191727.1:p.Arg404=
NM_172056.2:c.2230C>A , LRG_288t2:c.2230C>A	NP_742053.1:p.Arg744=
NM_172057.2:c.1210C>A , LRG_288t3:c.1210C>A	NP_742054.1:p.Arg404=
XM_011516185.1:c.1930C>A	XP_011514487.1:p.Arg644=
XM_011516186.1:c.2230C>A	XP_011514488.1:p.Arg744=
XM_011516185.2:c.1930C>A	XP_011514487.1:p.Arg644=
XM_011516186.3:c.2230C>A	XP_011514488.1:p.Arg744=
XM_017012195.1:c.2080C>A	XP_016867684.1:p.Arg694=
XM_017012196.1:c.2053C>A	XP_016867685.1:p.Arg685=
NM_000238.4:c.2230C>A MANE Select	NP_000229.1:p.Arg744=
NM_001204798.2:c.1210C>A	NP_001191727.1:p.Arg404=
NM_172057.3:c.1210C>A	NP_742054.1:p.Arg404=