Canonical Allele Identifier: CA458871151

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647281C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950193C>G , CM000669.2:g.150950193C>G	GRCh38
NC_000007.13:g.150647281C>G , CM000669.1:g.150647281C>G	GRCh37
NC_000007.12:g.150278214C>G	NCBI36
NG_008916.1:g.32734G>C , LRG_288:g.32734G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1671G>C
ENST00000684241.1:n.3206G>C
ENST00000262186.10:c.2373G>C MANE Select	ENSP00000262186.5:p.Arg791=
ENST00000330883.9:c.1353G>C	ENSP00000328531.4:p.Arg451=
ENST00000262186.9:c.2373G>C	ENSP00000262186.5:p.Arg791=
ENST00000330883.8:c.1353G>C	ENSP00000328531.4:p.Arg451=
ENST00000430723.4:c.2025G>C	ENSP00000387657.4:p.Arg675=
ENST00000461280.1:n.1660G>C
ENST00000473610.5:n.2005G>C
ENST00000532957.5:n.2596G>C
NM_000238.3:c.2373G>C , LRG_288t1:c.2373G>C	NP_000229.1:p.Arg791=
NM_001204798.1:c.1353G>C	NP_001191727.1:p.Arg451=
NM_172056.2:c.2373G>C , LRG_288t2:c.2373G>C	NP_742053.1:p.Arg791=
NM_172057.2:c.1353G>C , LRG_288t3:c.1353G>C	NP_742054.1:p.Arg451=
XM_011516185.1:c.2073G>C	XP_011514487.1:p.Arg691=
XM_011516186.1:c.2373G>C	XP_011514488.1:p.Arg791=
XM_011516185.2:c.2073G>C	XP_011514487.1:p.Arg691=
XM_011516186.3:c.2373G>C	XP_011514488.1:p.Arg791=
XM_017012195.1:c.2223G>C	XP_016867684.1:p.Arg741=
XM_017012196.1:c.2196G>C	XP_016867685.1:p.Arg732=
NM_000238.4:c.2373G>C MANE Select	NP_000229.1:p.Arg791=
NM_001204798.2:c.1353G>C	NP_001191727.1:p.Arg451=
NM_172057.3:c.1353G>C	NP_742054.1:p.Arg451=