Canonical Allele Identifier: CA005241

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67248
• ClinVar RCV Id: RCV000057959 ; RCV000181811 ; RCV000619615 ; RCV000631548 ; RCV000678923
• dbSNP Id: rs9333649
• gnomAD v2: 7-150648767-C-T
• gnomAD v3: 7-150951679-C-T
• gnomAD v4: 7-150951679-C-T
• MyVariant Identifiers: chr7:g.150648767C>T (hg19) ; chr7:g.150951679C>T (hg38)
• PubMed: PMID:15176425 ; PMID:15840476 ; PMID:16432067 ; PMID:16831322 ; PMID:17587740 ; PMID:17905336 ; PMID:18441445 ; PMID:18752142 ; PMID:19038855 ; PMID:19306396 ; PMID:19490267 ; PMID:19716085 ; PMID:19841300 ; PMID:19996378 ; PMID:20197117 ; PMID:21063070 ; PMID:22581653 ; PMID:22727609 ; PMID:22949429 ; PMID:23303164 ; PMID:24217263

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951679C>T , CM000669.2:g.150951679C>T	GRCh38
NC_000007.13:g.150648767C>T , CM000669.1:g.150648767C>T	GRCh37
NC_000007.12:g.150279700C>T	NCBI36
NG_008916.1:g.31248G>A , LRG_288:g.31248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1012G>A
ENST00000684241.1:n.2547G>A
ENST00000262186.10:c.1714G>A MANE Select	ENSP00000262186.5:p.Gly572Ser
ENST00000330883.9:c.694G>A	ENSP00000328531.4:p.Gly232Ser
ENST00000262186.9:c.1714G>A	ENSP00000262186.5:p.Gly572Ser
ENST00000330883.8:c.694G>A	ENSP00000328531.4:p.Gly232Ser
ENST00000430723.4:c.1366G>A	ENSP00000387657.4:p.Gly456Ser
ENST00000461280.1:n.1001G>A
ENST00000473610.5:n.1019G>A
ENST00000532957.5:n.1937G>A
NM_000238.3:c.1714G>A , LRG_288t1:c.1714G>A	NP_000229.1:p.Gly572Ser
NM_001204798.1:c.694G>A	NP_001191727.1:p.Gly232Ser
NM_172056.2:c.1714G>A , LRG_288t2:c.1714G>A	NP_742053.1:p.Gly572Ser
NM_172057.2:c.694G>A , LRG_288t3:c.694G>A	NP_742054.1:p.Gly232Ser
XM_011516185.1:c.1414G>A	XP_011514487.1:p.Gly472Ser
XM_011516186.1:c.1714G>A	XP_011514488.1:p.Gly572Ser
XM_011516185.2:c.1414G>A	XP_011514487.1:p.Gly472Ser
XM_011516186.3:c.1714G>A	XP_011514488.1:p.Gly572Ser
XM_017012195.1:c.1564G>A	XP_016867684.1:p.Gly522Ser
XM_017012196.1:c.1537G>A	XP_016867685.1:p.Gly513Ser
NM_000238.4:c.1714G>A MANE Select	NP_000229.1:p.Gly572Ser
NM_001204798.2:c.694G>A	NP_001191727.1:p.Gly232Ser
NM_172057.3:c.694G>A	NP_742054.1:p.Gly232Ser