Canonical Allele Identifier: CA2685602520

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948413-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948413_150948414insG , CM000669.2:g.150948413_150948414insG	GRCh38
NC_000007.13:g.150645501_150645502insG , CM000669.1:g.150645501_150645502insG	GRCh37
NC_000007.12:g.150276434_150276435insG	NCBI36
NG_008916.1:g.34513_34514insC , LRG_288:g.34513_34514insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+30_3525+31insC
ENST00000262186.10:c.2692+30_2692+31insC MANE Select	ENSP00000262186.5:n.2692+30_2692+31insC
ENST00000330883.9:c.1672+30_1672+31insC	ENSP00000328531.4:n.1672+30_1672+31insC
ENST00000262186.9:c.2692+30_2692+31insC	ENSP00000262186.5:n.2692+30_2692+31insC
ENST00000330883.8:c.1672+30_1672+31insC	ENSP00000328531.4:n.1672+30_1672+31insC
NM_000238.3:c.2692+30_2692+31insC , LRG_288t1:c.2692+30_2692+31insC	NP_000229.1:n.2692+30_2692+31insC
NM_172057.2:c.1672+30_1672+31insC , LRG_288t3:c.1672+30_1672+31insC	NP_742054.1:n.1672+30_1672+31insC
XM_011516185.1:c.2392+30_2392+31insC	XP_011514487.1:n.2392+30_2392+31insC
XM_011516186.1:c.2692+30_2692+31insC	XP_011514488.1:n.2692+30_2692+31insC
XM_011516185.2:c.2392+30_2392+31insC	XP_011514487.1:n.2392+30_2392+31insC
XM_011516186.3:c.2692+30_2692+31insC	XP_011514488.1:n.2692+30_2692+31insC
XM_017012195.1:c.2542+30_2542+31insC	XP_016867684.1:n.2542+30_2542+31insC
XM_017012196.1:c.2515+30_2515+31insC	XP_016867685.1:n.2515+30_2515+31insC
NM_000238.4:c.2692+30_2692+31insC MANE Select	NP_000229.1:n.2692+30_2692+31insC
NM_172057.3:c.1672+30_1672+31insC	NP_742054.1:n.1672+30_1672+31insC