Canonical Allele Identifier: CA004728

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67208
• ClinVar RCV Id: RCV000057917 ; RCV000181794 ; RCV000467289 ; RCV000618688
• dbSNP Id: rs199472912
• MyVariant Identifiers: chr7:g.150649569C>T (hg19) ; chr7:g.150952481C>T (hg38)
• PubMed: PMID:12402336 ; PMID:14998624 ; PMID:16414944 ; PMID:17088455 ; PMID:18441445 ; PMID:19352046 ; PMID:19716085 ; PMID:19926013 ; PMID:22581653 ; PMID:25254353 ; PMID:25576780 ; PMID:28794082

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952481C>T , CM000669.2:g.150952481C>T	GRCh38
NC_000007.13:g.150649569C>T , CM000669.1:g.150649569C>T	GRCh37
NC_000007.12:g.150280502C>T	NCBI36
NG_008916.1:g.30446G>A , LRG_288:g.30446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.799G>A
ENST00000684116.1:n.394G>A
ENST00000684241.1:n.2334G>A
ENST00000262186.10:c.1501G>A MANE Select	ENSP00000262186.5:p.Asp501Asn
ENST00000330883.9:c.481G>A	ENSP00000328531.4:p.Asp161Asn
ENST00000262186.9:c.1501G>A	ENSP00000262186.5:p.Asp501Asn
ENST00000330883.8:c.481G>A	ENSP00000328531.4:p.Asp161Asn
ENST00000430723.4:c.1153G>A	ENSP00000387657.4:p.Asp385Asn
ENST00000461280.1:n.788G>A
ENST00000473610.5:n.806G>A
ENST00000532957.5:n.1724G>A
NM_000238.3:c.1501G>A , LRG_288t1:c.1501G>A	NP_000229.1:p.Asp501Asn
NM_001204798.1:c.481G>A	NP_001191727.1:p.Asp161Asn
NM_172056.2:c.1501G>A , LRG_288t2:c.1501G>A	NP_742053.1:p.Asp501Asn
NM_172057.2:c.481G>A , LRG_288t3:c.481G>A	NP_742054.1:p.Asp161Asn
XM_011516185.1:c.1201G>A	XP_011514487.1:p.Asp401Asn
XM_011516186.1:c.1501G>A	XP_011514488.1:p.Asp501Asn
XM_011516185.2:c.1201G>A	XP_011514487.1:p.Asp401Asn
XM_011516186.3:c.1501G>A	XP_011514488.1:p.Asp501Asn
XM_017012195.1:c.1351G>A	XP_016867684.1:p.Asp451Asn
XM_017012196.1:c.1324G>A	XP_016867685.1:p.Asp442Asn
NM_000238.4:c.1501G>A MANE Select	NP_000229.1:p.Asp501Asn
NM_001204798.2:c.481G>A	NP_001191727.1:p.Asp161Asn
NM_172057.3:c.481G>A	NP_742054.1:p.Asp161Asn