Canonical Allele Identifier: CA2685603189

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974611-G-GCCCCCCCCCCCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974616_150974617insCCCCCCCCCCCCCCCCCCCCCCCCCCCC , CM000669.2:g.150974616_150974617insCCCCCCCCCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000007.13:g.150671704_150671705insCCCCCCCCCCCCCCCCCCCCCCCCCCCC , CM000669.1:g.150671704_150671705insCCCCCCCCCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000007.12:g.150302637_150302638insCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_008916.1:g.8315_8316insGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_288:g.8315_8316insGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000262186.5:n.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000262186.9:c.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000262186.5:n.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000430723.4:c.130+99_130+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000387657.4:n.130+99_130+100insGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000532957.5:n.530+99_530+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG
NM_000238.3:c.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_288t1:c.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_000229.1:n.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG
NM_172056.2:c.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_288t2:c.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_742053.1:n.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG
XM_011516186.1:c.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_011514488.1:n.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_011516186.3:c.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_011514488.1:n.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_017012196.1:c.130+99_130+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_016867685.1:n.130+99_130+100insGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000238.4:c.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000229.1:n.307+99_307+100insGGGGGGGGGGGGGGGGGGGGGGGGGGGG