Canonical Allele Identifier: CA369859642

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649577A>T (hg19) ; chr7:g.150952489A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952489A>T , CM000669.2:g.150952489A>T	GRCh38
NC_000007.13:g.150649577A>T , CM000669.1:g.150649577A>T	GRCh37
NC_000007.12:g.150280510A>T	NCBI36
NG_008916.1:g.30438T>A , LRG_288:g.30438T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.791T>A
ENST00000684116.1:n.386T>A
ENST00000684241.1:n.2326T>A
ENST00000262186.10:c.1493T>A MANE Select	ENSP00000262186.5:p.Phe498Tyr
ENST00000330883.9:c.473T>A	ENSP00000328531.4:p.Phe158Tyr
ENST00000262186.9:c.1493T>A	ENSP00000262186.5:p.Phe498Tyr
ENST00000330883.8:c.473T>A	ENSP00000328531.4:p.Phe158Tyr
ENST00000430723.4:c.1145T>A	ENSP00000387657.4:p.Phe382Tyr
ENST00000461280.1:n.780T>A
ENST00000473610.5:n.798T>A
ENST00000532957.5:n.1716T>A
NM_000238.3:c.1493T>A , LRG_288t1:c.1493T>A	NP_000229.1:p.Phe498Tyr
NM_001204798.1:c.473T>A	NP_001191727.1:p.Phe158Tyr
NM_172056.2:c.1493T>A , LRG_288t2:c.1493T>A	NP_742053.1:p.Phe498Tyr
NM_172057.2:c.473T>A , LRG_288t3:c.473T>A	NP_742054.1:p.Phe158Tyr
XM_011516185.1:c.1193T>A	XP_011514487.1:p.Phe398Tyr
XM_011516186.1:c.1493T>A	XP_011514488.1:p.Phe498Tyr
XM_011516185.2:c.1193T>A	XP_011514487.1:p.Phe398Tyr
XM_011516186.3:c.1493T>A	XP_011514488.1:p.Phe498Tyr
XM_017012195.1:c.1343T>A	XP_016867684.1:p.Phe448Tyr
XM_017012196.1:c.1316T>A	XP_016867685.1:p.Phe439Tyr
NM_000238.4:c.1493T>A MANE Select	NP_000229.1:p.Phe498Tyr
NM_001204798.2:c.473T>A	NP_001191727.1:p.Phe158Tyr
NM_172057.3:c.473T>A	NP_742054.1:p.Phe158Tyr