Canonical Allele Identifier: CA458645379

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648084G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950996G>A , CM000669.2:g.150950996G>A	GRCh38
NC_000007.13:g.150648084G>A , CM000669.1:g.150648084G>A	GRCh37
NC_000007.12:g.150279017G>A	NCBI36
NG_008916.1:g.31931C>T , LRG_288:g.31931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1368C>T
ENST00000683359.1:n.194C>T
ENST00000684241.1:n.2903C>T
ENST00000262186.10:c.2070C>T MANE Select	ENSP00000262186.5:p.Pro690=
ENST00000330883.9:c.1050C>T	ENSP00000328531.4:p.Pro350=
ENST00000262186.9:c.2070C>T	ENSP00000262186.5:p.Pro690=
ENST00000330883.8:c.1050C>T	ENSP00000328531.4:p.Pro350=
ENST00000430723.4:c.1722C>T	ENSP00000387657.4:p.Pro574=
ENST00000461280.1:n.1357C>T
ENST00000473610.5:n.1702C>T
ENST00000532957.5:n.2293C>T
NM_000238.3:c.2070C>T , LRG_288t1:c.2070C>T	NP_000229.1:p.Pro690=
NM_001204798.1:c.1050C>T	NP_001191727.1:p.Pro350=
NM_172056.2:c.2070C>T , LRG_288t2:c.2070C>T	NP_742053.1:p.Pro690=
NM_172057.2:c.1050C>T , LRG_288t3:c.1050C>T	NP_742054.1:p.Pro350=
XM_011516185.1:c.1770C>T	XP_011514487.1:p.Pro590=
XM_011516186.1:c.2070C>T	XP_011514488.1:p.Pro690=
XM_011516185.2:c.1770C>T	XP_011514487.1:p.Pro590=
XM_011516186.3:c.2070C>T	XP_011514488.1:p.Pro690=
XM_017012195.1:c.1920C>T	XP_016867684.1:p.Pro640=
XM_017012196.1:c.1893C>T	XP_016867685.1:p.Pro631=
NM_000238.4:c.2070C>T MANE Select	NP_000229.1:p.Pro690=
NM_001204798.2:c.1050C>T	NP_001191727.1:p.Pro350=
NM_172057.3:c.1050C>T	NP_742054.1:p.Pro350=