Canonical Allele Identifier: CA369857687

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648157A>T (hg19) ; chr7:g.150951069A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951069A>T , CM000669.2:g.150951069A>T	GRCh38
NC_000007.13:g.150648157A>T , CM000669.1:g.150648157A>T	GRCh37
NC_000007.12:g.150279090A>T	NCBI36
NG_008916.1:g.31858T>A , LRG_288:g.31858T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1295T>A
ENST00000683359.1:n.121T>A
ENST00000684241.1:n.2830T>A
ENST00000262186.10:c.1997T>A MANE Select	ENSP00000262186.5:p.Leu666Gln
ENST00000330883.9:c.977T>A	ENSP00000328531.4:p.Leu326Gln
ENST00000262186.9:c.1997T>A	ENSP00000262186.5:p.Leu666Gln
ENST00000330883.8:c.977T>A	ENSP00000328531.4:p.Leu326Gln
ENST00000430723.4:c.1649T>A	ENSP00000387657.4:p.Leu550Gln
ENST00000461280.1:n.1284T>A
ENST00000473610.5:n.1629T>A
ENST00000532957.5:n.2220T>A
NM_000238.3:c.1997T>A , LRG_288t1:c.1997T>A	NP_000229.1:p.Leu666Gln
NM_001204798.1:c.977T>A	NP_001191727.1:p.Leu326Gln
NM_172056.2:c.1997T>A , LRG_288t2:c.1997T>A	NP_742053.1:p.Leu666Gln
NM_172057.2:c.977T>A , LRG_288t3:c.977T>A	NP_742054.1:p.Leu326Gln
XM_011516185.1:c.1697T>A	XP_011514487.1:p.Leu566Gln
XM_011516186.1:c.1997T>A	XP_011514488.1:p.Leu666Gln
XM_011516185.2:c.1697T>A	XP_011514487.1:p.Leu566Gln
XM_011516186.3:c.1997T>A	XP_011514488.1:p.Leu666Gln
XM_017012195.1:c.1847T>A	XP_016867684.1:p.Leu616Gln
XM_017012196.1:c.1820T>A	XP_016867685.1:p.Leu607Gln
NM_000238.4:c.1997T>A MANE Select	NP_000229.1:p.Leu666Gln
NM_001204798.2:c.977T>A	NP_001191727.1:p.Leu326Gln
NM_172057.3:c.977T>A	NP_742054.1:p.Leu326Gln