Canonical Allele Identifier: CA2685610319

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150959775-C-CAGAGCAGAAAGCCACGCAGAGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959777_150959778insAGCAGAAAGCCACGCAGAGCAGAG , CM000669.2:g.150959777_150959778insAGCAGAAAGCCACGCAGAGCAGAG	GRCh38
NC_000007.13:g.150656865_150656866insAGCAGAAAGCCACGCAGAGCAGAG , CM000669.1:g.150656865_150656866insAGCAGAAAGCCACGCAGAGCAGAG	GRCh37
NC_000007.12:g.150287798_150287799insAGCAGAAAGCCACGCAGAGCAGAG	NCBI36
NG_008916.1:g.23151_23152insCTGCTCTGCGTGGCTTTCTGCTCT , LRG_288:g.23151_23152insCTGCTCTGCGTGGCTTTCTGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1101_1102insCTGCTCTGCGTGGCTTTCTGCTCT
ENST00000262186.10:c.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT MANE Select	ENSP00000262186.5:n.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT
ENST00000262186.9:c.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT	ENSP00000262186.5:n.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT
ENST00000430723.4:c.131-40_131-39insCTGCTCTGCGTGGCTTTCTGCTCT	ENSP00000387657.4:n.131-40_131-39insCTGCTCTGCGTGGCTTTCTGCTCT
ENST00000532957.5:n.531-40_531-39insCTGCTCTGCGTGGCTTTCTGCTCT
NM_000238.3:c.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT , LRG_288t1:c.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT	NP_000229.1:n.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT
NM_172056.2:c.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT , LRG_288t2:c.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT	NP_742053.1:n.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT
XM_011516185.1:c.8-40_8-39insCTGCTCTGCGTGGCTTTCTGCTCT	XP_011514487.1:n.8-40_8-39insCTGCTCTGCGTGGCTTTCTGCTCT
XM_011516186.1:c.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT	XP_011514488.1:n.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT
XM_011516185.2:c.8-40_8-39insCTGCTCTGCGTGGCTTTCTGCTCT	XP_011514487.1:n.8-40_8-39insCTGCTCTGCGTGGCTTTCTGCTCT
XM_011516186.3:c.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT	XP_011514488.1:n.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT
XM_017012195.1:c.158-40_158-39insCTGCTCTGCGTGGCTTTCTGCTCT	XP_016867684.1:n.158-40_158-39insCTGCTCTGCGTGGCTTTCTGCTCT
XM_017012196.1:c.131-40_131-39insCTGCTCTGCGTGGCTTTCTGCTCT	XP_016867685.1:n.131-40_131-39insCTGCTCTGCGTGGCTTTCTGCTCT
NM_000238.4:c.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT MANE Select	NP_000229.1:n.308-40_308-39insCTGCTCTGCGTGGCTTTCTGCTCT