Canonical Allele Identifier: CA031734

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 925151
• ClinVar RCV Id: RCV001227728 ; RCV001840974
• dbSNP Id: rs770393669
• ExAC: 7:150647282 C / T
• gnomAD v2: 7-150647282-C-T
• gnomAD v4: 7-150950194-C-T
• MyVariant Identifiers: chr7:g.150647282C>T (hg19) ; chr7:g.150950194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950194C>T , CM000669.2:g.150950194C>T	GRCh38
NC_000007.13:g.150647282C>T , CM000669.1:g.150647282C>T	GRCh37
NC_000007.12:g.150278215C>T	NCBI36
NG_008916.1:g.32733G>A , LRG_288:g.32733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1670G>A
ENST00000684241.1:n.3205G>A
ENST00000262186.10:c.2372G>A MANE Select	ENSP00000262186.5:p.Arg791Gln
ENST00000330883.9:c.1352G>A	ENSP00000328531.4:p.Arg451Gln
ENST00000262186.9:c.2372G>A	ENSP00000262186.5:p.Arg791Gln
ENST00000330883.8:c.1352G>A	ENSP00000328531.4:p.Arg451Gln
ENST00000430723.4:c.2024G>A	ENSP00000387657.4:p.Arg675Gln
ENST00000461280.1:n.1659G>A
ENST00000473610.5:n.2004G>A
ENST00000532957.5:n.2595G>A
NM_000238.3:c.2372G>A , LRG_288t1:c.2372G>A	NP_000229.1:p.Arg791Gln
NM_001204798.1:c.1352G>A	NP_001191727.1:p.Arg451Gln
NM_172056.2:c.2372G>A , LRG_288t2:c.2372G>A	NP_742053.1:p.Arg791Gln
NM_172057.2:c.1352G>A , LRG_288t3:c.1352G>A	NP_742054.1:p.Arg451Gln
XM_011516185.1:c.2072G>A	XP_011514487.1:p.Arg691Gln
XM_011516186.1:c.2372G>A	XP_011514488.1:p.Arg791Gln
XM_011516185.2:c.2072G>A	XP_011514487.1:p.Arg691Gln
XM_011516186.3:c.2372G>A	XP_011514488.1:p.Arg791Gln
XM_017012195.1:c.2222G>A	XP_016867684.1:p.Arg741Gln
XM_017012196.1:c.2195G>A	XP_016867685.1:p.Arg732Gln
NM_000238.4:c.2372G>A MANE Select	NP_000229.1:p.Arg791Gln
NM_001204798.2:c.1352G>A	NP_001191727.1:p.Arg451Gln
NM_172057.3:c.1352G>A	NP_742054.1:p.Arg451Gln