Canonical Allele Identifier: CA369856533

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647427A>T (hg19) ; chr7:g.150950339A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950339A>T , CM000669.2:g.150950339A>T	GRCh38
NC_000007.13:g.150647427A>T , CM000669.1:g.150647427A>T	GRCh37
NC_000007.12:g.150278360A>T	NCBI36
NG_008916.1:g.32588T>A , LRG_288:g.32588T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1525T>A
ENST00000684241.1:n.3060T>A
ENST00000262186.10:c.2227T>A MANE Select	ENSP00000262186.5:p.Phe743Ile
ENST00000330883.9:c.1207T>A	ENSP00000328531.4:p.Phe403Ile
ENST00000262186.9:c.2227T>A	ENSP00000262186.5:p.Phe743Ile
ENST00000330883.8:c.1207T>A	ENSP00000328531.4:p.Phe403Ile
ENST00000430723.4:c.1879T>A	ENSP00000387657.4:p.Phe627Ile
ENST00000461280.1:n.1514T>A
ENST00000473610.5:n.1859T>A
ENST00000532957.5:n.2450T>A
NM_000238.3:c.2227T>A , LRG_288t1:c.2227T>A	NP_000229.1:p.Phe743Ile
NM_001204798.1:c.1207T>A	NP_001191727.1:p.Phe403Ile
NM_172056.2:c.2227T>A , LRG_288t2:c.2227T>A	NP_742053.1:p.Phe743Ile
NM_172057.2:c.1207T>A , LRG_288t3:c.1207T>A	NP_742054.1:p.Phe403Ile
XM_011516185.1:c.1927T>A	XP_011514487.1:p.Phe643Ile
XM_011516186.1:c.2227T>A	XP_011514488.1:p.Phe743Ile
XM_011516185.2:c.1927T>A	XP_011514487.1:p.Phe643Ile
XM_011516186.3:c.2227T>A	XP_011514488.1:p.Phe743Ile
XM_017012195.1:c.2077T>A	XP_016867684.1:p.Phe693Ile
XM_017012196.1:c.2050T>A	XP_016867685.1:p.Phe684Ile
NM_000238.4:c.2227T>A MANE Select	NP_000229.1:p.Phe743Ile
NM_001204798.2:c.1207T>A	NP_001191727.1:p.Phe403Ile
NM_172057.3:c.1207T>A	NP_742054.1:p.Phe403Ile