Canonical Allele Identifier: CA006509

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67390
• ClinVar RCV Id: RCV000058112 ; RCV002513760
• dbSNP Id: rs199473535
• MyVariant Identifiers: chr7:g.150647290C>G (hg19) ; chr7:g.150950202C>G (hg38)
• PubMed: PMID:15840476 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950202C>G , CM000669.2:g.150950202C>G	GRCh38
NC_000007.13:g.150647290C>G , CM000669.1:g.150647290C>G	GRCh37
NC_000007.12:g.150278223C>G	NCBI36
NG_008916.1:g.32725G>C , LRG_288:g.32725G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1662G>C
ENST00000684241.1:n.3197G>C
ENST00000262186.10:c.2364G>C MANE Select	ENSP00000262186.5:p.Glu788Asp
ENST00000330883.9:c.1344G>C	ENSP00000328531.4:p.Glu448Asp
ENST00000262186.9:c.2364G>C	ENSP00000262186.5:p.Glu788Asp
ENST00000330883.8:c.1344G>C	ENSP00000328531.4:p.Glu448Asp
ENST00000430723.4:c.2016G>C	ENSP00000387657.4:p.Glu672Asp
ENST00000461280.1:n.1651G>C
ENST00000473610.5:n.1996G>C
ENST00000532957.5:n.2587G>C
NM_000238.3:c.2364G>C , LRG_288t1:c.2364G>C	NP_000229.1:p.Glu788Asp
NM_001204798.1:c.1344G>C	NP_001191727.1:p.Glu448Asp
NM_172056.2:c.2364G>C , LRG_288t2:c.2364G>C	NP_742053.1:p.Glu788Asp
NM_172057.2:c.1344G>C , LRG_288t3:c.1344G>C	NP_742054.1:p.Glu448Asp
XM_011516185.1:c.2064G>C	XP_011514487.1:p.Glu688Asp
XM_011516186.1:c.2364G>C	XP_011514488.1:p.Glu788Asp
XM_011516185.2:c.2064G>C	XP_011514487.1:p.Glu688Asp
XM_011516186.3:c.2364G>C	XP_011514488.1:p.Glu788Asp
XM_017012195.1:c.2214G>C	XP_016867684.1:p.Glu738Asp
XM_017012196.1:c.2187G>C	XP_016867685.1:p.Glu729Asp
NM_000238.4:c.2364G>C MANE Select	NP_000229.1:p.Glu788Asp
NM_001204798.2:c.1344G>C	NP_001191727.1:p.Glu448Asp
NM_172057.3:c.1344G>C	NP_742054.1:p.Glu448Asp