Canonical Allele Identifier: CA2685603630

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974640-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974640_150974641insA , CM000669.2:g.150974640_150974641insA	GRCh38
NC_000007.13:g.150671728_150671729insA , CM000669.1:g.150671728_150671729insA	GRCh37
NC_000007.12:g.150302661_150302662insA	NCBI36
NG_008916.1:g.8286_8287insT , LRG_288:g.8286_8287insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+70_307+71insT MANE Select	ENSP00000262186.5:n.307+70_307+71insT
ENST00000262186.9:c.307+70_307+71insT	ENSP00000262186.5:n.307+70_307+71insT
ENST00000430723.4:c.130+70_130+71insT	ENSP00000387657.4:n.130+70_130+71insT
ENST00000532957.5:n.530+70_530+71insT
NM_000238.3:c.307+70_307+71insT , LRG_288t1:c.307+70_307+71insT	NP_000229.1:n.307+70_307+71insT
NM_172056.2:c.307+70_307+71insT , LRG_288t2:c.307+70_307+71insT	NP_742053.1:n.307+70_307+71insT
XM_011516186.1:c.307+70_307+71insT	XP_011514488.1:n.307+70_307+71insT
XM_011516186.3:c.307+70_307+71insT	XP_011514488.1:n.307+70_307+71insT
XM_017012196.1:c.130+70_130+71insT	XP_016867685.1:n.130+70_130+71insT
NM_000238.4:c.307+70_307+71insT MANE Select	NP_000229.1:n.307+70_307+71insT