Canonical Allele Identifier: CA458645727

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649852G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952764G>A , CM000669.2:g.150952764G>A	GRCh38
NC_000007.13:g.150649852G>A , CM000669.1:g.150649852G>A	GRCh37
NC_000007.12:g.150280785G>A	NCBI36
NG_008916.1:g.30163C>T , LRG_288:g.30163C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.516C>T
ENST00000684116.1:n.111C>T
ENST00000684241.1:n.2051C>T
ENST00000262186.10:c.1218C>T MANE Select	ENSP00000262186.5:p.Phe406=
ENST00000330883.9:c.198C>T	ENSP00000328531.4:p.Phe66=
ENST00000262186.9:c.1218C>T	ENSP00000262186.5:p.Phe406=
ENST00000330883.8:c.198C>T	ENSP00000328531.4:p.Phe66=
ENST00000430723.4:c.870C>T	ENSP00000387657.4:p.Phe290=
ENST00000461280.1:n.505C>T
ENST00000473610.5:n.523C>T
ENST00000532957.5:n.1441C>T
NM_000238.3:c.1218C>T , LRG_288t1:c.1218C>T	NP_000229.1:p.Phe406=
NM_001204798.1:c.198C>T	NP_001191727.1:p.Phe66=
NM_172056.2:c.1218C>T , LRG_288t2:c.1218C>T	NP_742053.1:p.Phe406=
NM_172057.2:c.198C>T , LRG_288t3:c.198C>T	NP_742054.1:p.Phe66=
XM_011516185.1:c.918C>T	XP_011514487.1:p.Phe306=
XM_011516186.1:c.1218C>T	XP_011514488.1:p.Phe406=
XM_011516185.2:c.918C>T	XP_011514487.1:p.Phe306=
XM_011516186.3:c.1218C>T	XP_011514488.1:p.Phe406=
XM_017012195.1:c.1068C>T	XP_016867684.1:p.Phe356=
XM_017012196.1:c.1041C>T	XP_016867685.1:p.Phe347=
NM_000238.4:c.1218C>T MANE Select	NP_000229.1:p.Phe406=
NM_001204798.2:c.198C>T	NP_001191727.1:p.Phe66=
NM_172057.3:c.198C>T	NP_742054.1:p.Phe66=