Canonical Allele Identifier: CA369857788

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648206G>T (hg19) ; chr7:g.150951118G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951118G>T , CM000669.2:g.150951118G>T	GRCh38
NC_000007.13:g.150648206G>T , CM000669.1:g.150648206G>T	GRCh37
NC_000007.12:g.150279139G>T	NCBI36
NG_008916.1:g.31809C>A , LRG_288:g.31809C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1246C>A
ENST00000683359.1:n.72C>A
ENST00000684241.1:n.2781C>A
ENST00000262186.10:c.1948C>A MANE Select	ENSP00000262186.5:p.Leu650Ile
ENST00000330883.9:c.928C>A	ENSP00000328531.4:p.Leu310Ile
ENST00000262186.9:c.1948C>A	ENSP00000262186.5:p.Leu650Ile
ENST00000330883.8:c.928C>A	ENSP00000328531.4:p.Leu310Ile
ENST00000430723.4:c.1600C>A	ENSP00000387657.4:p.Leu534Ile
ENST00000461280.1:n.1235C>A
ENST00000473610.5:n.1580C>A
ENST00000532957.5:n.2171C>A
NM_000238.3:c.1948C>A , LRG_288t1:c.1948C>A	NP_000229.1:p.Leu650Ile
NM_001204798.1:c.928C>A	NP_001191727.1:p.Leu310Ile
NM_172056.2:c.1948C>A , LRG_288t2:c.1948C>A	NP_742053.1:p.Leu650Ile
NM_172057.2:c.928C>A , LRG_288t3:c.928C>A	NP_742054.1:p.Leu310Ile
XM_011516185.1:c.1648C>A	XP_011514487.1:p.Leu550Ile
XM_011516186.1:c.1948C>A	XP_011514488.1:p.Leu650Ile
XM_011516185.2:c.1648C>A	XP_011514487.1:p.Leu550Ile
XM_011516186.3:c.1948C>A	XP_011514488.1:p.Leu650Ile
XM_017012195.1:c.1798C>A	XP_016867684.1:p.Leu600Ile
XM_017012196.1:c.1771C>A	XP_016867685.1:p.Leu591Ile
NM_000238.4:c.1948C>A MANE Select	NP_000229.1:p.Leu650Ile
NM_001204798.2:c.928C>A	NP_001191727.1:p.Leu310Ile
NM_172057.3:c.928C>A	NP_742054.1:p.Leu310Ile