Canonical Allele Identifier: CA007347

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67436
• ClinVar RCV Id: RCV000058162 ; RCV000471859 ; RCV001841723 ; RCV002483096 ; RCV002433556
• dbSNP Id: rs199473439
• gnomAD v2: 7-150644894-C-T
• gnomAD v3: 7-150947806-C-T
• gnomAD v4: 7-150947806-C-T
• MyVariant Identifiers: chr7:g.150644894C>T (hg19) ; chr7:g.150947806C>T (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947806C>T , CM000669.2:g.150947806C>T	GRCh38
NC_000007.13:g.150644894C>T , CM000669.1:g.150644894C>T	GRCh37
NC_000007.12:g.150275827C>T	NCBI36
NG_008916.1:g.35121G>A , LRG_288:g.35121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3598G>A
ENST00000262186.10:c.2765G>A MANE Select	ENSP00000262186.5:p.Arg922Gln
ENST00000330883.9:c.1745G>A	ENSP00000328531.4:p.Arg582Gln
ENST00000262186.9:c.2765G>A	ENSP00000262186.5:p.Arg922Gln
ENST00000330883.8:c.1745G>A	ENSP00000328531.4:p.Arg582Gln
NM_000238.3:c.2765G>A , LRG_288t1:c.2765G>A	NP_000229.1:p.Arg922Gln
NM_172057.2:c.1745G>A , LRG_288t3:c.1745G>A	NP_742054.1:p.Arg582Gln
XM_011516185.1:c.2465G>A	XP_011514487.1:p.Arg822Gln
XM_011516186.1:c.2693-115G>A	XP_011514488.1:n.2693-115G>A
XM_011516185.2:c.2465G>A	XP_011514487.1:p.Arg822Gln
XM_011516186.3:c.2693-115G>A	XP_011514488.1:n.2693-115G>A
XM_017012195.1:c.2615G>A	XP_016867684.1:p.Arg872Gln
XM_017012196.1:c.2588G>A	XP_016867685.1:p.Arg863Gln
NM_000238.4:c.2765G>A MANE Select	NP_000229.1:p.Arg922Gln
NM_172057.3:c.1745G>A	NP_742054.1:p.Arg582Gln