Canonical Allele Identifier: CA458645442

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951056-T-C
• MyVariant Identifiers: chr7:g.150648144T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951056T>C , CM000669.2:g.150951056T>C	GRCh38
NC_000007.13:g.150648144T>C , CM000669.1:g.150648144T>C	GRCh37
NC_000007.12:g.150279077T>C	NCBI36
NG_008916.1:g.31871A>G , LRG_288:g.31871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1308A>G
ENST00000683359.1:n.134A>G
ENST00000684241.1:n.2843A>G
ENST00000262186.10:c.2010A>G MANE Select	ENSP00000262186.5:p.Thr670=
ENST00000330883.9:c.990A>G	ENSP00000328531.4:p.Thr330=
ENST00000262186.9:c.2010A>G	ENSP00000262186.5:p.Thr670=
ENST00000330883.8:c.990A>G	ENSP00000328531.4:p.Thr330=
ENST00000430723.4:c.1662A>G	ENSP00000387657.4:p.Thr554=
ENST00000461280.1:n.1297A>G
ENST00000473610.5:n.1642A>G
ENST00000532957.5:n.2233A>G
NM_000238.3:c.2010A>G , LRG_288t1:c.2010A>G	NP_000229.1:p.Thr670=
NM_001204798.1:c.990A>G	NP_001191727.1:p.Thr330=
NM_172056.2:c.2010A>G , LRG_288t2:c.2010A>G	NP_742053.1:p.Thr670=
NM_172057.2:c.990A>G , LRG_288t3:c.990A>G	NP_742054.1:p.Thr330=
XM_011516185.1:c.1710A>G	XP_011514487.1:p.Thr570=
XM_011516186.1:c.2010A>G	XP_011514488.1:p.Thr670=
XM_011516185.2:c.1710A>G	XP_011514487.1:p.Thr570=
XM_011516186.3:c.2010A>G	XP_011514488.1:p.Thr670=
XM_017012195.1:c.1860A>G	XP_016867684.1:p.Thr620=
XM_017012196.1:c.1833A>G	XP_016867685.1:p.Thr611=
NM_000238.4:c.2010A>G MANE Select	NP_000229.1:p.Thr670=
NM_001204798.2:c.990A>G	NP_001191727.1:p.Thr330=
NM_172057.3:c.990A>G	NP_742054.1:p.Thr330=