Canonical Allele Identifier: CA458871714

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2801770
• ClinVar RCV Id: RCV003647511
• MyVariant Identifiers: chr7:g.150649776G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952688G>A , CM000669.2:g.150952688G>A	GRCh38
NC_000007.13:g.150649776G>A , CM000669.1:g.150649776G>A	GRCh37
NC_000007.12:g.150280709G>A	NCBI36
NG_008916.1:g.30239C>T , LRG_288:g.30239C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.592C>T
ENST00000684116.1:n.187C>T
ENST00000684241.1:n.2127C>T
ENST00000262186.10:c.1294C>T MANE Select	ENSP00000262186.5:p.Leu432=
ENST00000330883.9:c.274C>T	ENSP00000328531.4:p.Leu92=
ENST00000262186.9:c.1294C>T	ENSP00000262186.5:p.Leu432=
ENST00000330883.8:c.274C>T	ENSP00000328531.4:p.Leu92=
ENST00000430723.4:c.946C>T	ENSP00000387657.4:p.Leu316=
ENST00000461280.1:n.581C>T
ENST00000473610.5:n.599C>T
ENST00000532957.5:n.1517C>T
NM_000238.3:c.1294C>T , LRG_288t1:c.1294C>T	NP_000229.1:p.Leu432=
NM_001204798.1:c.274C>T	NP_001191727.1:p.Leu92=
NM_172056.2:c.1294C>T , LRG_288t2:c.1294C>T	NP_742053.1:p.Leu432=
NM_172057.2:c.274C>T , LRG_288t3:c.274C>T	NP_742054.1:p.Leu92=
XM_011516185.1:c.994C>T	XP_011514487.1:p.Leu332=
XM_011516186.1:c.1294C>T	XP_011514488.1:p.Leu432=
XM_011516185.2:c.994C>T	XP_011514487.1:p.Leu332=
XM_011516186.3:c.1294C>T	XP_011514488.1:p.Leu432=
XM_017012195.1:c.1144C>T	XP_016867684.1:p.Leu382=
XM_017012196.1:c.1117C>T	XP_016867685.1:p.Leu373=
NM_000238.4:c.1294C>T MANE Select	NP_000229.1:p.Leu432=
NM_001204798.2:c.274C>T	NP_001191727.1:p.Leu92=
NM_172057.3:c.274C>T	NP_742054.1:p.Leu92=