Canonical Allele Identifier: CA005525

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67279
• ClinVar RCV Id: RCV000057995 ; RCV000208241 ; RCV000233419 ; RCV000619597
• dbSNP Id: rs199472936
• gnomAD v4: 7-150951592-C-T
• COSMIC: COSM5436045 ; COSM5436046 ; COSM5436047
• MyVariant Identifiers: chr7:g.150648680C>T (hg19) ; chr7:g.150951592C>T (hg38)
• PubMed: PMID:9452080 ; PMID:10226095 ; PMID:10483966 ; PMID:10862094 ; PMID:10973849 ; PMID:11741928 ; PMID:15851652 ; PMID:16432067 ; PMID:18441445 ; PMID:18752142 ; PMID:19716085 ; PMID:19841300 ; PMID:21490315 ; PMID:21573751 ; PMID:22581653 ; PMID:22949429 ; PMID:23303164 ; PMID:27761161

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951592C>T , CM000669.2:g.150951592C>T	GRCh38
NC_000007.13:g.150648680C>T , CM000669.1:g.150648680C>T	GRCh37
NC_000007.12:g.150279613C>T	NCBI36
NG_008916.1:g.31335G>A , LRG_288:g.31335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1099G>A
ENST00000684241.1:n.2634G>A
ENST00000262186.10:c.1801G>A MANE Select	ENSP00000262186.5:p.Gly601Ser
ENST00000330883.9:c.781G>A	ENSP00000328531.4:p.Gly261Ser
ENST00000262186.9:c.1801G>A	ENSP00000262186.5:p.Gly601Ser
ENST00000330883.8:c.781G>A	ENSP00000328531.4:p.Gly261Ser
ENST00000430723.4:c.1453G>A	ENSP00000387657.4:p.Gly485Ser
ENST00000461280.1:n.1088G>A
ENST00000473610.5:n.1106G>A
ENST00000532957.5:n.2024G>A
NM_000238.3:c.1801G>A , LRG_288t1:c.1801G>A	NP_000229.1:p.Gly601Ser
NM_001204798.1:c.781G>A	NP_001191727.1:p.Gly261Ser
NM_172056.2:c.1801G>A , LRG_288t2:c.1801G>A	NP_742053.1:p.Gly601Ser
NM_172057.2:c.781G>A , LRG_288t3:c.781G>A	NP_742054.1:p.Gly261Ser
XM_011516185.1:c.1501G>A	XP_011514487.1:p.Gly501Ser
XM_011516186.1:c.1801G>A	XP_011514488.1:p.Gly601Ser
XM_011516185.2:c.1501G>A	XP_011514487.1:p.Gly501Ser
XM_011516186.3:c.1801G>A	XP_011514488.1:p.Gly601Ser
XM_017012195.1:c.1651G>A	XP_016867684.1:p.Gly551Ser
XM_017012196.1:c.1624G>A	XP_016867685.1:p.Gly542Ser
NM_000238.4:c.1801G>A MANE Select	NP_000229.1:p.Gly601Ser
NM_001204798.2:c.781G>A	NP_001191727.1:p.Gly261Ser
NM_172057.3:c.781G>A	NP_742054.1:p.Gly261Ser