Canonical Allele Identifier: CA006030

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67336
• ClinVar RCV Id: RCV000058055 ; RCV000234804
• dbSNP Id: rs199472970
• MyVariant Identifiers: chr7:g.150648561G>T (hg19) ; chr7:g.150951473G>T (hg38)
• PubMed: PMID:10220144 ; PMID:12566525 ; PMID:19841300 ; PMID:22581653 ; PMID:27041150 ; PMID:27485560

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951473G>T , CM000669.2:g.150951473G>T	GRCh38
NC_000007.13:g.150648561G>T , CM000669.1:g.150648561G>T	GRCh37
NC_000007.12:g.150279494G>T	NCBI36
NG_008916.1:g.31454C>A , LRG_288:g.31454C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1218C>A
ENST00000683359.1:n.44C>A
ENST00000684241.1:n.2753C>A
ENST00000262186.10:c.1920C>A MANE Select	ENSP00000262186.5:p.Phe640Leu
ENST00000330883.9:c.900C>A	ENSP00000328531.4:p.Phe300Leu
ENST00000262186.9:c.1920C>A	ENSP00000262186.5:p.Phe640Leu
ENST00000330883.8:c.900C>A	ENSP00000328531.4:p.Phe300Leu
ENST00000430723.4:c.1572C>A	ENSP00000387657.4:p.Phe524Leu
ENST00000461280.1:n.1207C>A
ENST00000473610.5:n.1225C>A
ENST00000532957.5:n.2143C>A
NM_000238.3:c.1920C>A , LRG_288t1:c.1920C>A	NP_000229.1:p.Phe640Leu
NM_001204798.1:c.900C>A	NP_001191727.1:p.Phe300Leu
NM_172056.2:c.1920C>A , LRG_288t2:c.1920C>A	NP_742053.1:p.Phe640Leu
NM_172057.2:c.900C>A , LRG_288t3:c.900C>A	NP_742054.1:p.Phe300Leu
XM_011516185.1:c.1620C>A	XP_011514487.1:p.Phe540Leu
XM_011516186.1:c.1920C>A	XP_011514488.1:p.Phe640Leu
XM_011516185.2:c.1620C>A	XP_011514487.1:p.Phe540Leu
XM_011516186.3:c.1920C>A	XP_011514488.1:p.Phe640Leu
XM_017012195.1:c.1770C>A	XP_016867684.1:p.Phe590Leu
XM_017012196.1:c.1743C>A	XP_016867685.1:p.Phe581Leu
NM_000238.4:c.1920C>A MANE Select	NP_000229.1:p.Phe640Leu
NM_001204798.2:c.900C>A	NP_001191727.1:p.Phe300Leu
NM_172057.3:c.900C>A	NP_742054.1:p.Phe300Leu