Canonical Allele Identifier: CA008563

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67510
• ClinVar RCV Id: RCV000058239 ; RCV000617359 ; RCV001080698
• dbSNP Id: rs41308954
• ExAC: 7:150655521 C / T
• gnomAD v2: 7-150655521-C-T
• gnomAD v3: 7-150958433-C-T
• gnomAD v4: 7-150958433-C-T
• MyVariant Identifiers: chr7:g.150655521C>T (hg19) ; chr7:g.150958433C>T (hg38)
• PubMed: PMID:14661677 ; PMID:15913580 ; PMID:19841300 ; PMID:22581653 ; PMID:25351510

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958433C>T , CM000669.2:g.150958433C>T	GRCh38
NC_000007.13:g.150655521C>T , CM000669.1:g.150655521C>T	GRCh37
NC_000007.12:g.150286454C>T	NCBI36
NG_008916.1:g.24494G>A , LRG_288:g.24494G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1375G>A
ENST00000262186.10:c.542G>A MANE Select	ENSP00000262186.5:p.Arg181Gln
ENST00000262186.9:c.542G>A	ENSP00000262186.5:p.Arg181Gln
ENST00000430723.4:c.235-41G>A	ENSP00000387657.4:n.235-41G>A
ENST00000532957.5:n.765G>A
NM_000238.3:c.542G>A , LRG_288t1:c.542G>A	NP_000229.1:p.Arg181Gln
NM_172056.2:c.542G>A , LRG_288t2:c.542G>A	NP_742053.1:p.Arg181Gln
XM_011516185.1:c.242G>A	XP_011514487.1:p.Arg81Gln
XM_011516186.1:c.542G>A	XP_011514488.1:p.Arg181Gln
XM_011516185.2:c.242G>A	XP_011514487.1:p.Arg81Gln
XM_011516186.3:c.542G>A	XP_011514488.1:p.Arg181Gln
XM_017012195.1:c.392G>A	XP_016867684.1:p.Arg131Gln
XM_017012196.1:c.365G>A	XP_016867685.1:p.Arg122Gln
NM_000238.4:c.542G>A MANE Select	NP_000229.1:p.Arg181Gln