Canonical Allele Identifier: CA004741

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67210
• ClinVar RCV Id: RCV000057919 ; RCV000181795
• dbSNP Id: rs199473513
• MyVariant Identifiers: chr7:g.150649568T>C (hg19) ; chr7:g.150952480T>C (hg38)
• PubMed: PMID:19926013 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952480T>C , CM000669.2:g.150952480T>C	GRCh38
NC_000007.13:g.150649568T>C , CM000669.1:g.150649568T>C	GRCh37
NC_000007.12:g.150280501T>C	NCBI36
NG_008916.1:g.30447A>G , LRG_288:g.30447A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.800A>G
ENST00000684116.1:n.395A>G
ENST00000684241.1:n.2335A>G
ENST00000262186.10:c.1502A>G MANE Select	ENSP00000262186.5:p.Asp501Gly
ENST00000330883.9:c.482A>G	ENSP00000328531.4:p.Asp161Gly
ENST00000262186.9:c.1502A>G	ENSP00000262186.5:p.Asp501Gly
ENST00000330883.8:c.482A>G	ENSP00000328531.4:p.Asp161Gly
ENST00000430723.4:c.1154A>G	ENSP00000387657.4:p.Asp385Gly
ENST00000461280.1:n.789A>G
ENST00000473610.5:n.807A>G
ENST00000532957.5:n.1725A>G
NM_000238.3:c.1502A>G , LRG_288t1:c.1502A>G	NP_000229.1:p.Asp501Gly
NM_001204798.1:c.482A>G	NP_001191727.1:p.Asp161Gly
NM_172056.2:c.1502A>G , LRG_288t2:c.1502A>G	NP_742053.1:p.Asp501Gly
NM_172057.2:c.482A>G , LRG_288t3:c.482A>G	NP_742054.1:p.Asp161Gly
XM_011516185.1:c.1202A>G	XP_011514487.1:p.Asp401Gly
XM_011516186.1:c.1502A>G	XP_011514488.1:p.Asp501Gly
XM_011516185.2:c.1202A>G	XP_011514487.1:p.Asp401Gly
XM_011516186.3:c.1502A>G	XP_011514488.1:p.Asp501Gly
XM_017012195.1:c.1352A>G	XP_016867684.1:p.Asp451Gly
XM_017012196.1:c.1325A>G	XP_016867685.1:p.Asp442Gly
NM_000238.4:c.1502A>G MANE Select	NP_000229.1:p.Asp501Gly
NM_001204798.2:c.482A>G	NP_001191727.1:p.Asp161Gly
NM_172057.3:c.482A>G	NP_742054.1:p.Asp161Gly