Canonical Allele Identifier: CA369859633

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649574A>G (hg19) ; chr7:g.150952486A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.794T>C
ENST00000684116.1:n.389T>C
ENST00000684241.1:n.2329T>C
ENST00000262186.10:c.1496T>C MANE Select	ENSP00000262186.5:p.Leu499Pro
ENST00000330883.9:c.476T>C	ENSP00000328531.4:p.Leu159Pro
ENST00000262186.9:c.1496T>C	ENSP00000262186.5:p.Leu499Pro
ENST00000330883.8:c.476T>C	ENSP00000328531.4:p.Leu159Pro
ENST00000430723.4:c.1148T>C	ENSP00000387657.4:p.Leu383Pro
ENST00000461280.1:n.783T>C
ENST00000473610.5:n.801T>C
ENST00000532957.5:n.1719T>C
NM_000238.3:c.1496T>C , LRG_288t1:c.1496T>C	NP_000229.1:p.Leu499Pro
NM_001204798.1:c.476T>C	NP_001191727.1:p.Leu159Pro
NM_172056.2:c.1496T>C , LRG_288t2:c.1496T>C	NP_742053.1:p.Leu499Pro
NM_172057.2:c.476T>C , LRG_288t3:c.476T>C	NP_742054.1:p.Leu159Pro
XM_011516185.1:c.1196T>C	XP_011514487.1:p.Leu399Pro
XM_011516186.1:c.1496T>C	XP_011514488.1:p.Leu499Pro
XM_011516185.2:c.1196T>C	XP_011514487.1:p.Leu399Pro
XM_011516186.3:c.1496T>C	XP_011514488.1:p.Leu499Pro
XM_017012195.1:c.1346T>C	XP_016867684.1:p.Leu449Pro
XM_017012196.1:c.1319T>C	XP_016867685.1:p.Leu440Pro
NM_000238.4:c.1496T>C MANE Select	NP_000229.1:p.Leu499Pro
NM_001204798.2:c.476T>C	NP_001191727.1:p.Leu159Pro
NM_172057.3:c.476T>C	NP_742054.1:p.Leu159Pro