Canonical Allele Identifier: CA458871274

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647347C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950259C>A , CM000669.2:g.150950259C>A	GRCh38
NC_000007.13:g.150647347C>A , CM000669.1:g.150647347C>A	GRCh37
NC_000007.12:g.150278280C>A	NCBI36
NG_008916.1:g.32668G>T , LRG_288:g.32668G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1605G>T
ENST00000684241.1:n.3140G>T
ENST00000262186.10:c.2307G>T MANE Select	ENSP00000262186.5:p.Leu769=
ENST00000330883.9:c.1287G>T	ENSP00000328531.4:p.Leu429=
ENST00000262186.9:c.2307G>T	ENSP00000262186.5:p.Leu769=
ENST00000330883.8:c.1287G>T	ENSP00000328531.4:p.Leu429=
ENST00000430723.4:c.1959G>T	ENSP00000387657.4:p.Leu653=
ENST00000461280.1:n.1594G>T
ENST00000473610.5:n.1939G>T
ENST00000532957.5:n.2530G>T
NM_000238.3:c.2307G>T , LRG_288t1:c.2307G>T	NP_000229.1:p.Leu769=
NM_001204798.1:c.1287G>T	NP_001191727.1:p.Leu429=
NM_172056.2:c.2307G>T , LRG_288t2:c.2307G>T	NP_742053.1:p.Leu769=
NM_172057.2:c.1287G>T , LRG_288t3:c.1287G>T	NP_742054.1:p.Leu429=
XM_011516185.1:c.2007G>T	XP_011514487.1:p.Leu669=
XM_011516186.1:c.2307G>T	XP_011514488.1:p.Leu769=
XM_011516185.2:c.2007G>T	XP_011514487.1:p.Leu669=
XM_011516186.3:c.2307G>T	XP_011514488.1:p.Leu769=
XM_017012195.1:c.2157G>T	XP_016867684.1:p.Leu719=
XM_017012196.1:c.2130G>T	XP_016867685.1:p.Leu710=
NM_000238.4:c.2307G>T MANE Select	NP_000229.1:p.Leu769=
NM_001204798.2:c.1287G>T	NP_001191727.1:p.Leu429=
NM_172057.3:c.1287G>T	NP_742054.1:p.Leu429=