Canonical Allele Identifier: CA369857925

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1676088
• ClinVar RCV Id: RCV002214457
• dbSNP Id: rs2116960034
• MyVariant Identifiers: chr7:g.150648616A>T (hg19) ; chr7:g.150951528A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951528A>T , CM000669.2:g.150951528A>T	GRCh38
NC_000007.13:g.150648616A>T , CM000669.1:g.150648616A>T	GRCh37
NC_000007.12:g.150279549A>T	NCBI36
NG_008916.1:g.31399T>A , LRG_288:g.31399T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1163T>A
ENST00000684241.1:n.2698T>A
ENST00000262186.10:c.1865T>A MANE Select	ENSP00000262186.5:p.Leu622His
ENST00000330883.9:c.845T>A	ENSP00000328531.4:p.Leu282His
ENST00000262186.9:c.1865T>A	ENSP00000262186.5:p.Leu622His
ENST00000330883.8:c.845T>A	ENSP00000328531.4:p.Leu282His
ENST00000430723.4:c.1517T>A	ENSP00000387657.4:p.Leu506His
ENST00000461280.1:n.1152T>A
ENST00000473610.5:n.1170T>A
ENST00000532957.5:n.2088T>A
NM_000238.3:c.1865T>A , LRG_288t1:c.1865T>A	NP_000229.1:p.Leu622His
NM_001204798.1:c.845T>A	NP_001191727.1:p.Leu282His
NM_172056.2:c.1865T>A , LRG_288t2:c.1865T>A	NP_742053.1:p.Leu622His
NM_172057.2:c.845T>A , LRG_288t3:c.845T>A	NP_742054.1:p.Leu282His
XM_011516185.1:c.1565T>A	XP_011514487.1:p.Leu522His
XM_011516186.1:c.1865T>A	XP_011514488.1:p.Leu622His
XM_011516185.2:c.1565T>A	XP_011514487.1:p.Leu522His
XM_011516186.3:c.1865T>A	XP_011514488.1:p.Leu622His
XM_017012195.1:c.1715T>A	XP_016867684.1:p.Leu572His
XM_017012196.1:c.1688T>A	XP_016867685.1:p.Leu563His
NM_000238.4:c.1865T>A MANE Select	NP_000229.1:p.Leu622His
NM_001204798.2:c.845T>A	NP_001191727.1:p.Leu282His
NM_172057.3:c.845T>A	NP_742054.1:p.Leu282His