Canonical Allele Identifier: CA004714

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200346
• ClinVar RCV Id: RCV000223922 ; RCV002390455 ; RCV000181793 ; RCV003532022
• dbSNP Id: rs794728370
• MyVariant Identifiers: chr7:g.150649574A>C (hg19) ; chr7:g.150952486A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952486A>C , CM000669.2:g.150952486A>C	GRCh38
NC_000007.13:g.150649574A>C , CM000669.1:g.150649574A>C	GRCh37
NC_000007.12:g.150280507A>C	NCBI36
NG_008916.1:g.30441T>G , LRG_288:g.30441T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.794T>G
ENST00000684116.1:n.389T>G
ENST00000684241.1:n.2329T>G
ENST00000262186.10:c.1496T>G MANE Select	ENSP00000262186.5:p.Leu499Arg
ENST00000330883.9:c.476T>G	ENSP00000328531.4:p.Leu159Arg
ENST00000262186.9:c.1496T>G	ENSP00000262186.5:p.Leu499Arg
ENST00000330883.8:c.476T>G	ENSP00000328531.4:p.Leu159Arg
ENST00000430723.4:c.1148T>G	ENSP00000387657.4:p.Leu383Arg
ENST00000461280.1:n.783T>G
ENST00000473610.5:n.801T>G
ENST00000532957.5:n.1719T>G
NM_000238.3:c.1496T>G , LRG_288t1:c.1496T>G	NP_000229.1:p.Leu499Arg
NM_001204798.1:c.476T>G	NP_001191727.1:p.Leu159Arg
NM_172056.2:c.1496T>G , LRG_288t2:c.1496T>G	NP_742053.1:p.Leu499Arg
NM_172057.2:c.476T>G , LRG_288t3:c.476T>G	NP_742054.1:p.Leu159Arg
XM_011516185.1:c.1196T>G	XP_011514487.1:p.Leu399Arg
XM_011516186.1:c.1496T>G	XP_011514488.1:p.Leu499Arg
XM_011516185.2:c.1196T>G	XP_011514487.1:p.Leu399Arg
XM_011516186.3:c.1496T>G	XP_011514488.1:p.Leu499Arg
XM_017012195.1:c.1346T>G	XP_016867684.1:p.Leu449Arg
XM_017012196.1:c.1319T>G	XP_016867685.1:p.Leu440Arg
NM_000238.4:c.1496T>G MANE Select	NP_000229.1:p.Leu499Arg
NM_001204798.2:c.476T>G	NP_001191727.1:p.Leu159Arg
NM_172057.3:c.476T>G	NP_742054.1:p.Leu159Arg