Canonical Allele Identifier: CA369860197

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649854A>T (hg19) ; chr7:g.150952766A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952766A>T , CM000669.2:g.150952766A>T	GRCh38
NC_000007.13:g.150649854A>T , CM000669.1:g.150649854A>T	GRCh37
NC_000007.12:g.150280787A>T	NCBI36
NG_008916.1:g.30161T>A , LRG_288:g.30161T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.514T>A
ENST00000684116.1:n.109T>A
ENST00000684241.1:n.2049T>A
ENST00000262186.10:c.1216T>A MANE Select	ENSP00000262186.5:p.Phe406Ile
ENST00000330883.9:c.196T>A	ENSP00000328531.4:p.Phe66Ile
ENST00000262186.9:c.1216T>A	ENSP00000262186.5:p.Phe406Ile
ENST00000330883.8:c.196T>A	ENSP00000328531.4:p.Phe66Ile
ENST00000430723.4:c.868T>A	ENSP00000387657.4:p.Phe290Ile
ENST00000461280.1:n.503T>A
ENST00000473610.5:n.521T>A
ENST00000532957.5:n.1439T>A
NM_000238.3:c.1216T>A , LRG_288t1:c.1216T>A	NP_000229.1:p.Phe406Ile
NM_001204798.1:c.196T>A	NP_001191727.1:p.Phe66Ile
NM_172056.2:c.1216T>A , LRG_288t2:c.1216T>A	NP_742053.1:p.Phe406Ile
NM_172057.2:c.196T>A , LRG_288t3:c.196T>A	NP_742054.1:p.Phe66Ile
XM_011516185.1:c.916T>A	XP_011514487.1:p.Phe306Ile
XM_011516186.1:c.1216T>A	XP_011514488.1:p.Phe406Ile
XM_011516185.2:c.916T>A	XP_011514487.1:p.Phe306Ile
XM_011516186.3:c.1216T>A	XP_011514488.1:p.Phe406Ile
XM_017012195.1:c.1066T>A	XP_016867684.1:p.Phe356Ile
XM_017012196.1:c.1039T>A	XP_016867685.1:p.Phe347Ile
NM_000238.4:c.1216T>A MANE Select	NP_000229.1:p.Phe406Ile
NM_001204798.2:c.196T>A	NP_001191727.1:p.Phe66Ile
NM_172057.3:c.196T>A	NP_742054.1:p.Phe66Ile