Canonical Allele Identifier: CA458871298

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647365T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950277T>G , CM000669.2:g.150950277T>G	GRCh38
NC_000007.13:g.150647365T>G , CM000669.1:g.150647365T>G	GRCh37
NC_000007.12:g.150278298T>G	NCBI36
NG_008916.1:g.32650A>C , LRG_288:g.32650A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1587A>C
ENST00000684241.1:n.3122A>C
ENST00000262186.10:c.2289A>C MANE Select	ENSP00000262186.5:p.Ala763=
ENST00000330883.9:c.1269A>C	ENSP00000328531.4:p.Ala423=
ENST00000262186.9:c.2289A>C	ENSP00000262186.5:p.Ala763=
ENST00000330883.8:c.1269A>C	ENSP00000328531.4:p.Ala423=
ENST00000430723.4:c.1941A>C	ENSP00000387657.4:p.Ala647=
ENST00000461280.1:n.1576A>C
ENST00000473610.5:n.1921A>C
ENST00000532957.5:n.2512A>C
NM_000238.3:c.2289A>C , LRG_288t1:c.2289A>C	NP_000229.1:p.Ala763=
NM_001204798.1:c.1269A>C	NP_001191727.1:p.Ala423=
NM_172056.2:c.2289A>C , LRG_288t2:c.2289A>C	NP_742053.1:p.Ala763=
NM_172057.2:c.1269A>C , LRG_288t3:c.1269A>C	NP_742054.1:p.Ala423=
XM_011516185.1:c.1989A>C	XP_011514487.1:p.Ala663=
XM_011516186.1:c.2289A>C	XP_011514488.1:p.Ala763=
XM_011516185.2:c.1989A>C	XP_011514487.1:p.Ala663=
XM_011516186.3:c.2289A>C	XP_011514488.1:p.Ala763=
XM_017012195.1:c.2139A>C	XP_016867684.1:p.Ala713=
XM_017012196.1:c.2112A>C	XP_016867685.1:p.Ala704=
NM_000238.4:c.2289A>C MANE Select	NP_000229.1:p.Ala763=
NM_001204798.2:c.1269A>C	NP_001191727.1:p.Ala423=
NM_172057.3:c.1269A>C	NP_742054.1:p.Ala423=