Canonical Allele Identifier: CA007504

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67443
• ClinVar RCV Id: RCV000058170 ; RCV000182047 ; RCV000578446 ; RCV000794762
• dbSNP Id: rs199473011
• ExAC: 7:150644816 C / T
• gnomAD v2: 7-150644816-C-T
• gnomAD v3: 7-150947728-C-T
• gnomAD v4: 7-150947728-C-T
• MyVariant Identifiers: chr7:g.150644816C>T (hg19) ; chr7:g.150947728C>T (hg38)
• PubMed: PMID:20541041 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947728C>T , CM000669.2:g.150947728C>T	GRCh38
NC_000007.13:g.150644816C>T , CM000669.1:g.150644816C>T	GRCh37
NC_000007.12:g.150275749C>T	NCBI36
NG_008916.1:g.35199G>A , LRG_288:g.35199G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3676G>A
ENST00000262186.10:c.2843G>A MANE Select	ENSP00000262186.5:p.Arg948His
ENST00000330883.9:c.1823G>A	ENSP00000328531.4:p.Arg608His
ENST00000262186.9:c.2843G>A	ENSP00000262186.5:p.Arg948His
ENST00000330883.8:c.1823G>A	ENSP00000328531.4:p.Arg608His
NM_000238.3:c.2843G>A , LRG_288t1:c.2843G>A	NP_000229.1:p.Arg948His
NM_172057.2:c.1823G>A , LRG_288t3:c.1823G>A	NP_742054.1:p.Arg608His
XM_011516185.1:c.2543G>A	XP_011514487.1:p.Arg848His
XM_011516186.1:c.2693-37G>A	XP_011514488.1:n.2693-37G>A
XM_011516185.2:c.2543G>A	XP_011514487.1:p.Arg848His
XM_011516186.3:c.2693-37G>A	XP_011514488.1:n.2693-37G>A
XM_017012195.1:c.2693G>A	XP_016867684.1:p.Arg898His
XM_017012196.1:c.2666G>A	XP_016867685.1:p.Arg889His
NM_000238.4:c.2843G>A MANE Select	NP_000229.1:p.Arg948His
NM_172057.3:c.1823G>A	NP_742054.1:p.Arg608His