Canonical Allele Identifier: CA578706933

Gene: KCNH2

Linked Data

• dbSNP Id: rs1264345497
• gnomAD v2: 7-150671728-CTG-C
• gnomAD v3: 7-150974640-CTG-C
• gnomAD v4: 7-150974640-CTG-C
• MyVariant Identifiers: chr7:g.150671729_150671730del (hg19) ; chr7:g.150974641_150974642del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974641_150974642del , CM000669.2:g.150974641_150974642del	GRCh38
NC_000007.13:g.150671729_150671730del , CM000669.1:g.150671729_150671730del	GRCh37
NC_000007.12:g.150302662_150302663del	NCBI36
NG_008916.1:g.8285_8286del , LRG_288:g.8285_8286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+69_307+70del MANE Select	ENSP00000262186.5:n.307+69_307+70del
ENST00000262186.9:c.307+69_307+70del	ENSP00000262186.5:n.307+69_307+70del
ENST00000430723.4:c.130+69_130+70del	ENSP00000387657.4:n.130+69_130+70del
ENST00000532957.5:n.530+69_530+70del
NM_000238.3:c.307+69_307+70del , LRG_288t1:c.307+69_307+70del	NP_000229.1:n.307+69_307+70del
NM_172056.2:c.307+69_307+70del , LRG_288t2:c.307+69_307+70del	NP_742053.1:n.307+69_307+70del
XM_011516186.1:c.307+69_307+70del	XP_011514488.1:n.307+69_307+70del
XM_011516186.3:c.307+69_307+70del	XP_011514488.1:n.307+69_307+70del
XM_017012196.1:c.130+69_130+70del	XP_016867685.1:n.130+69_130+70del
NM_000238.4:c.307+69_307+70del MANE Select	NP_000229.1:n.307+69_307+70del