Canonical Allele Identifier: CA005751

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67305
• ClinVar RCV Id: RCV000058023 ; RCV001854200
• dbSNP Id: rs199472952
• MyVariant Identifiers: chr7:g.150648604C>T (hg19) ; chr7:g.150951516C>T (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951516C>T , CM000669.2:g.150951516C>T	GRCh38
NC_000007.13:g.150648604C>T , CM000669.1:g.150648604C>T	GRCh37
NC_000007.12:g.150279537C>T	NCBI36
NG_008916.1:g.31411G>A , LRG_288:g.31411G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1175G>A
ENST00000683359.1:n.1G>A
ENST00000684241.1:n.2710G>A
ENST00000262186.10:c.1877G>A MANE Select	ENSP00000262186.5:p.Gly626Asp
ENST00000330883.9:c.857G>A	ENSP00000328531.4:p.Gly286Asp
ENST00000262186.9:c.1877G>A	ENSP00000262186.5:p.Gly626Asp
ENST00000330883.8:c.857G>A	ENSP00000328531.4:p.Gly286Asp
ENST00000430723.4:c.1529G>A	ENSP00000387657.4:p.Gly510Asp
ENST00000461280.1:n.1164G>A
ENST00000473610.5:n.1182G>A
ENST00000532957.5:n.2100G>A
NM_000238.3:c.1877G>A , LRG_288t1:c.1877G>A	NP_000229.1:p.Gly626Asp
NM_001204798.1:c.857G>A	NP_001191727.1:p.Gly286Asp
NM_172056.2:c.1877G>A , LRG_288t2:c.1877G>A	NP_742053.1:p.Gly626Asp
NM_172057.2:c.857G>A , LRG_288t3:c.857G>A	NP_742054.1:p.Gly286Asp
XM_011516185.1:c.1577G>A	XP_011514487.1:p.Gly526Asp
XM_011516186.1:c.1877G>A	XP_011514488.1:p.Gly626Asp
XM_011516185.2:c.1577G>A	XP_011514487.1:p.Gly526Asp
XM_011516186.3:c.1877G>A	XP_011514488.1:p.Gly626Asp
XM_017012195.1:c.1727G>A	XP_016867684.1:p.Gly576Asp
XM_017012196.1:c.1700G>A	XP_016867685.1:p.Gly567Asp
NM_000238.4:c.1877G>A MANE Select	NP_000229.1:p.Gly626Asp
NM_001204798.2:c.857G>A	NP_001191727.1:p.Gly286Asp
NM_172057.3:c.857G>A	NP_742054.1:p.Gly286Asp