Canonical Allele Identifier: CA006501

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67389
• ClinVar RCV Id: RCV000058111 ; RCV000230704
• dbSNP Id: rs199472997
• MyVariant Identifiers: chr7:g.150647292C>T (hg19) ; chr7:g.150950204C>T (hg38)
• PubMed: PMID:19184172 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950204C>T , CM000669.2:g.150950204C>T	GRCh38
NC_000007.13:g.150647292C>T , CM000669.1:g.150647292C>T	GRCh37
NC_000007.12:g.150278225C>T	NCBI36
NG_008916.1:g.32723G>A , LRG_288:g.32723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1660G>A
ENST00000684241.1:n.3195G>A
ENST00000262186.10:c.2362G>A MANE Select	ENSP00000262186.5:p.Glu788Lys
ENST00000330883.9:c.1342G>A	ENSP00000328531.4:p.Glu448Lys
ENST00000262186.9:c.2362G>A	ENSP00000262186.5:p.Glu788Lys
ENST00000330883.8:c.1342G>A	ENSP00000328531.4:p.Glu448Lys
ENST00000430723.4:c.2014G>A	ENSP00000387657.4:p.Glu672Lys
ENST00000461280.1:n.1649G>A
ENST00000473610.5:n.1994G>A
ENST00000532957.5:n.2585G>A
NM_000238.3:c.2362G>A , LRG_288t1:c.2362G>A	NP_000229.1:p.Glu788Lys
NM_001204798.1:c.1342G>A	NP_001191727.1:p.Glu448Lys
NM_172056.2:c.2362G>A , LRG_288t2:c.2362G>A	NP_742053.1:p.Glu788Lys
NM_172057.2:c.1342G>A , LRG_288t3:c.1342G>A	NP_742054.1:p.Glu448Lys
XM_011516185.1:c.2062G>A	XP_011514487.1:p.Glu688Lys
XM_011516186.1:c.2362G>A	XP_011514488.1:p.Glu788Lys
XM_011516185.2:c.2062G>A	XP_011514487.1:p.Glu688Lys
XM_011516186.3:c.2362G>A	XP_011514488.1:p.Glu788Lys
XM_017012195.1:c.2212G>A	XP_016867684.1:p.Glu738Lys
XM_017012196.1:c.2185G>A	XP_016867685.1:p.Glu729Lys
NM_000238.4:c.2362G>A MANE Select	NP_000229.1:p.Glu788Lys
NM_001204798.2:c.1342G>A	NP_001191727.1:p.Glu448Lys
NM_172057.3:c.1342G>A	NP_742054.1:p.Glu448Lys