Canonical Allele Identifier: CA458871653

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649675C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952587C>A , CM000669.2:g.150952587C>A	GRCh38
NC_000007.13:g.150649675C>A , CM000669.1:g.150649675C>A	GRCh37
NC_000007.12:g.150280608C>A	NCBI36
NG_008916.1:g.30340G>T , LRG_288:g.30340G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.693G>T
ENST00000684116.1:n.288G>T
ENST00000684241.1:n.2228G>T
ENST00000262186.10:c.1395G>T MANE Select	ENSP00000262186.5:p.Val465=
ENST00000330883.9:c.375G>T	ENSP00000328531.4:p.Val125=
ENST00000262186.9:c.1395G>T	ENSP00000262186.5:p.Val465=
ENST00000330883.8:c.375G>T	ENSP00000328531.4:p.Val125=
ENST00000430723.4:c.1047G>T	ENSP00000387657.4:p.Val349=
ENST00000461280.1:n.682G>T
ENST00000473610.5:n.700G>T
ENST00000532957.5:n.1618G>T
NM_000238.3:c.1395G>T , LRG_288t1:c.1395G>T	NP_000229.1:p.Val465=
NM_001204798.1:c.375G>T	NP_001191727.1:p.Val125=
NM_172056.2:c.1395G>T , LRG_288t2:c.1395G>T	NP_742053.1:p.Val465=
NM_172057.2:c.375G>T , LRG_288t3:c.375G>T	NP_742054.1:p.Val125=
XM_011516185.1:c.1095G>T	XP_011514487.1:p.Val365=
XM_011516186.1:c.1395G>T	XP_011514488.1:p.Val465=
XM_011516185.2:c.1095G>T	XP_011514487.1:p.Val365=
XM_011516186.3:c.1395G>T	XP_011514488.1:p.Val465=
XM_017012195.1:c.1245G>T	XP_016867684.1:p.Val415=
XM_017012196.1:c.1218G>T	XP_016867685.1:p.Val406=
NM_000238.4:c.1395G>T MANE Select	NP_000229.1:p.Val465=
NM_001204798.2:c.375G>T	NP_001191727.1:p.Val125=
NM_172057.3:c.375G>T	NP_742054.1:p.Val125=