Canonical Allele Identifier: CA578706890

Gene: KCNH2

Linked Data

• dbSNP Id: rs1481300992
• gnomAD v2: 7-150671604-G-GT
• gnomAD v3: 7-150974516-G-GT
• gnomAD v4: 7-150974516-G-GT
• MyVariant Identifiers: chr7:g.150671604_150671605insT (hg19) ; chr7:g.150974516_150974517insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974516_150974517insT , CM000669.2:g.150974516_150974517insT	GRCh38
NC_000007.13:g.150671604_150671605insT , CM000669.1:g.150671604_150671605insT	GRCh37
NC_000007.12:g.150302537_150302538insT	NCBI36
NG_008916.1:g.8410_8411insA , LRG_288:g.8410_8411insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+194_307+195insA MANE Select	ENSP00000262186.5:n.307+194_307+195insA
ENST00000262186.9:c.307+194_307+195insA	ENSP00000262186.5:n.307+194_307+195insA
ENST00000430723.4:c.130+194_130+195insA	ENSP00000387657.4:n.130+194_130+195insA
ENST00000532957.5:n.530+194_530+195insA
NM_000238.3:c.307+194_307+195insA , LRG_288t1:c.307+194_307+195insA	NP_000229.1:n.307+194_307+195insA
NM_172056.2:c.307+194_307+195insA , LRG_288t2:c.307+194_307+195insA	NP_742053.1:n.307+194_307+195insA
XM_011516186.1:c.307+194_307+195insA	XP_011514488.1:n.307+194_307+195insA
XM_011516186.3:c.307+194_307+195insA	XP_011514488.1:n.307+194_307+195insA
XM_017012196.1:c.130+194_130+195insA	XP_016867685.1:n.130+194_130+195insA
NM_000238.4:c.307+194_307+195insA MANE Select	NP_000229.1:n.307+194_307+195insA