Canonical Allele Identifier: CA004277

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67166
• ClinVar RCV Id: RCV000057873 ; RCV000535219 ; RCV002460903
• dbSNP Id: rs199473506
• MyVariant Identifiers: chr7:g.150649865T>C (hg19) ; chr7:g.150952777T>C (hg38)
• PubMed: PMID:19136169 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952777T>C , CM000669.2:g.150952777T>C	GRCh38
NC_000007.13:g.150649865T>C , CM000669.1:g.150649865T>C	GRCh37
NC_000007.12:g.150280798T>C	NCBI36
NG_008916.1:g.30150A>G , LRG_288:g.30150A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.503A>G
ENST00000684116.1:n.98A>G
ENST00000684241.1:n.2038A>G
ENST00000262186.10:c.1205A>G MANE Select	ENSP00000262186.5:p.His402Arg
ENST00000330883.9:c.185A>G	ENSP00000328531.4:p.His62Arg
ENST00000262186.9:c.1205A>G	ENSP00000262186.5:p.His402Arg
ENST00000330883.8:c.185A>G	ENSP00000328531.4:p.His62Arg
ENST00000430723.4:c.857A>G	ENSP00000387657.4:p.His286Arg
ENST00000461280.1:n.492A>G
ENST00000473610.5:n.510A>G
ENST00000532957.5:n.1428A>G
NM_000238.3:c.1205A>G , LRG_288t1:c.1205A>G	NP_000229.1:p.His402Arg
NM_001204798.1:c.185A>G	NP_001191727.1:p.His62Arg
NM_172056.2:c.1205A>G , LRG_288t2:c.1205A>G	NP_742053.1:p.His402Arg
NM_172057.2:c.185A>G , LRG_288t3:c.185A>G	NP_742054.1:p.His62Arg
XM_011516185.1:c.905A>G	XP_011514487.1:p.His302Arg
XM_011516186.1:c.1205A>G	XP_011514488.1:p.His402Arg
XM_011516185.2:c.905A>G	XP_011514487.1:p.His302Arg
XM_011516186.3:c.1205A>G	XP_011514488.1:p.His402Arg
XM_017012195.1:c.1055A>G	XP_016867684.1:p.His352Arg
XM_017012196.1:c.1028A>G	XP_016867685.1:p.His343Arg
NM_000238.4:c.1205A>G MANE Select	NP_000229.1:p.His402Arg
NM_001204798.2:c.185A>G	NP_001191727.1:p.His62Arg
NM_172057.3:c.185A>G	NP_742054.1:p.His62Arg