Canonical Allele Identifier: CA004358

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67174
• ClinVar RCV Id: RCV000057881 ; RCV000181786 ; RCV003531951
• dbSNP Id: rs199472895
• MyVariant Identifiers: chr7:g.150649806C>T (hg19) ; chr7:g.150952718C>T (hg38)
• PubMed: PMID:15242738 ; PMID:15840476 ; PMID:16432067 ; PMID:22580281 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952718C>T , CM000669.2:g.150952718C>T	GRCh38
NC_000007.13:g.150649806C>T , CM000669.1:g.150649806C>T	GRCh37
NC_000007.12:g.150280739C>T	NCBI36
NG_008916.1:g.30209G>A , LRG_288:g.30209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.562G>A
ENST00000684116.1:n.157G>A
ENST00000684241.1:n.2097G>A
ENST00000262186.10:c.1264G>A MANE Select	ENSP00000262186.5:p.Ala422Thr
ENST00000330883.9:c.244G>A	ENSP00000328531.4:p.Ala82Thr
ENST00000262186.9:c.1264G>A	ENSP00000262186.5:p.Ala422Thr
ENST00000330883.8:c.244G>A	ENSP00000328531.4:p.Ala82Thr
ENST00000430723.4:c.916G>A	ENSP00000387657.4:p.Ala306Thr
ENST00000461280.1:n.551G>A
ENST00000473610.5:n.569G>A
ENST00000532957.5:n.1487G>A
NM_000238.3:c.1264G>A , LRG_288t1:c.1264G>A	NP_000229.1:p.Ala422Thr
NM_001204798.1:c.244G>A	NP_001191727.1:p.Ala82Thr
NM_172056.2:c.1264G>A , LRG_288t2:c.1264G>A	NP_742053.1:p.Ala422Thr
NM_172057.2:c.244G>A , LRG_288t3:c.244G>A	NP_742054.1:p.Ala82Thr
XM_011516185.1:c.964G>A	XP_011514487.1:p.Ala322Thr
XM_011516186.1:c.1264G>A	XP_011514488.1:p.Ala422Thr
XM_011516185.2:c.964G>A	XP_011514487.1:p.Ala322Thr
XM_011516186.3:c.1264G>A	XP_011514488.1:p.Ala422Thr
XM_017012195.1:c.1114G>A	XP_016867684.1:p.Ala372Thr
XM_017012196.1:c.1087G>A	XP_016867685.1:p.Ala363Thr
NM_000238.4:c.1264G>A MANE Select	NP_000229.1:p.Ala422Thr
NM_001204798.2:c.244G>A	NP_001191727.1:p.Ala82Thr
NM_172057.3:c.244G>A	NP_742054.1:p.Ala82Thr