Canonical Allele Identifier: CA004323

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67171
• ClinVar RCV Id: RCV000057878 ; RCV001854187
• dbSNP Id: rs199473507
• MyVariant Identifiers: chr7:g.150649811T>C (hg19) ; chr7:g.150952723T>C (hg38)
• PubMed: PMID:15840476 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952723T>C , CM000669.2:g.150952723T>C	GRCh38
NC_000007.13:g.150649811T>C , CM000669.1:g.150649811T>C	GRCh37
NC_000007.12:g.150280744T>C	NCBI36
NG_008916.1:g.30204A>G , LRG_288:g.30204A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.557A>G
ENST00000684116.1:n.152A>G
ENST00000684241.1:n.2092A>G
ENST00000262186.10:c.1259A>G MANE Select	ENSP00000262186.5:p.Tyr420Cys
ENST00000330883.9:c.239A>G	ENSP00000328531.4:p.Tyr80Cys
ENST00000262186.9:c.1259A>G	ENSP00000262186.5:p.Tyr420Cys
ENST00000330883.8:c.239A>G	ENSP00000328531.4:p.Tyr80Cys
ENST00000430723.4:c.911A>G	ENSP00000387657.4:p.Tyr304Cys
ENST00000461280.1:n.546A>G
ENST00000473610.5:n.564A>G
ENST00000532957.5:n.1482A>G
NM_000238.3:c.1259A>G , LRG_288t1:c.1259A>G	NP_000229.1:p.Tyr420Cys
NM_001204798.1:c.239A>G	NP_001191727.1:p.Tyr80Cys
NM_172056.2:c.1259A>G , LRG_288t2:c.1259A>G	NP_742053.1:p.Tyr420Cys
NM_172057.2:c.239A>G , LRG_288t3:c.239A>G	NP_742054.1:p.Tyr80Cys
XM_011516185.1:c.959A>G	XP_011514487.1:p.Tyr320Cys
XM_011516186.1:c.1259A>G	XP_011514488.1:p.Tyr420Cys
XM_011516185.2:c.959A>G	XP_011514487.1:p.Tyr320Cys
XM_011516186.3:c.1259A>G	XP_011514488.1:p.Tyr420Cys
XM_017012195.1:c.1109A>G	XP_016867684.1:p.Tyr370Cys
XM_017012196.1:c.1082A>G	XP_016867685.1:p.Tyr361Cys
NM_000238.4:c.1259A>G MANE Select	NP_000229.1:p.Tyr420Cys
NM_001204798.2:c.239A>G	NP_001191727.1:p.Tyr80Cys
NM_172057.3:c.239A>G	NP_742054.1:p.Tyr80Cys