Canonical Allele Identifier: CA369858778

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 526968
• ClinVar RCV Id: RCV000631644 ; RCV000760331
• dbSNP Id: rs199473517
• MyVariant Identifiers: chr7:g.150648792C>T (hg19) ; chr7:g.150951704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951704C>T , CM000669.2:g.150951704C>T	GRCh38
NC_000007.13:g.150648792C>T , CM000669.1:g.150648792C>T	GRCh37
NC_000007.12:g.150279725C>T	NCBI36
NG_008916.1:g.31223G>A , LRG_288:g.31223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.987G>A
ENST00000684241.1:n.2522G>A
ENST00000262186.10:c.1689G>A MANE Select	ENSP00000262186.5:p.Trp563Ter
ENST00000330883.9:c.669G>A	ENSP00000328531.4:p.Trp223Ter
ENST00000262186.9:c.1689G>A	ENSP00000262186.5:p.Trp563Ter
ENST00000330883.8:c.669G>A	ENSP00000328531.4:p.Trp223Ter
ENST00000430723.4:c.1341G>A	ENSP00000387657.4:p.Trp447Ter
ENST00000461280.1:n.976G>A
ENST00000473610.5:n.994G>A
ENST00000532957.5:n.1912G>A
NM_000238.3:c.1689G>A , LRG_288t1:c.1689G>A	NP_000229.1:p.Trp563Ter
NM_001204798.1:c.669G>A	NP_001191727.1:p.Trp223Ter
NM_172056.2:c.1689G>A , LRG_288t2:c.1689G>A	NP_742053.1:p.Trp563Ter
NM_172057.2:c.669G>A , LRG_288t3:c.669G>A	NP_742054.1:p.Trp223Ter
XM_011516185.1:c.1389G>A	XP_011514487.1:p.Trp463Ter
XM_011516186.1:c.1689G>A	XP_011514488.1:p.Trp563Ter
XM_011516185.2:c.1389G>A	XP_011514487.1:p.Trp463Ter
XM_011516186.3:c.1689G>A	XP_011514488.1:p.Trp563Ter
XM_017012195.1:c.1539G>A	XP_016867684.1:p.Trp513Ter
XM_017012196.1:c.1512G>A	XP_016867685.1:p.Trp504Ter
NM_000238.4:c.1689G>A MANE Select	NP_000229.1:p.Trp563Ter
NM_001204798.2:c.669G>A	NP_001191727.1:p.Trp223Ter
NM_172057.3:c.669G>A	NP_742054.1:p.Trp223Ter