Canonical Allele Identifier: CA658797053

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519204
• ClinVar RCV Id: RCV000619294 ; RCV001860384
• dbSNP Id: rs1554430850

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974710_150974711delinsAA , CM000669.2:g.150974710_150974711delinsAA	GRCh38
NC_000007.13:g.150671798_150671799delinsAA , CM000669.1:g.150671798_150671799delinsAA	GRCh37
NC_000007.12:g.150302731_150302732delinsAA	NCBI36
NG_008916.1:g.8216_8217delinsTT , LRG_288:g.8216_8217delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307_307+1delinsTT
ENST00000262186.9:c.307_307+1delinsTT
ENST00000430723.4:c.130_130+1delinsTT
ENST00000532957.5:n.530_530+1delinsTT
NM_000238.3:c.307_307+1delinsTT , LRG_288t1:c.307_307+1delinsTT
NM_172056.2:c.307_307+1delinsTT , LRG_288t2:c.307_307+1delinsTT
XM_011516186.1:c.307_307+1delinsTT
XM_011516186.3:c.307_307+1delinsTT
XM_017012196.1:c.130_130+1delinsTT
NM_000238.4:c.307_307+1delinsTT