Canonical Allele Identifier: CA2685602658

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948426-T-TCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948430_150948431insCCCCCCCCCCCCCC , CM000669.2:g.150948430_150948431insCCCCCCCCCCCCCC	GRCh38
NC_000007.13:g.150645518_150645519insCCCCCCCCCCCCCC , CM000669.1:g.150645518_150645519insCCCCCCCCCCCCCC	GRCh37
NC_000007.12:g.150276451_150276452insCCCCCCCCCCCCCC	NCBI36
NG_008916.1:g.34500_34501insGGGGGGGGGGGGGG , LRG_288:g.34500_34501insGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+17_3525+18insGGGGGGGGGGGGGG
ENST00000262186.10:c.2692+17_2692+18insGGGGGGGGGGGGGG MANE Select	ENSP00000262186.5:n.2692+17_2692+18insGGGGGGGGGGGGGG
ENST00000330883.9:c.1672+17_1672+18insGGGGGGGGGGGGGG	ENSP00000328531.4:n.1672+17_1672+18insGGGGGGGGGGGGGG
ENST00000262186.9:c.2692+17_2692+18insGGGGGGGGGGGGGG	ENSP00000262186.5:n.2692+17_2692+18insGGGGGGGGGGGGGG
ENST00000330883.8:c.1672+17_1672+18insGGGGGGGGGGGGGG	ENSP00000328531.4:n.1672+17_1672+18insGGGGGGGGGGGGGG
NM_000238.3:c.2692+17_2692+18insGGGGGGGGGGGGGG , LRG_288t1:c.2692+17_2692+18insGGGGGGGGGGGGGG	NP_000229.1:n.2692+17_2692+18insGGGGGGGGGGGGGG
NM_172057.2:c.1672+17_1672+18insGGGGGGGGGGGGGG , LRG_288t3:c.1672+17_1672+18insGGGGGGGGGGGGGG	NP_742054.1:n.1672+17_1672+18insGGGGGGGGGGGGGG
XM_011516185.1:c.2392+17_2392+18insGGGGGGGGGGGGGG	XP_011514487.1:n.2392+17_2392+18insGGGGGGGGGGGGGG
XM_011516186.1:c.2692+17_2692+18insGGGGGGGGGGGGGG	XP_011514488.1:n.2692+17_2692+18insGGGGGGGGGGGGGG
XM_011516185.2:c.2392+17_2392+18insGGGGGGGGGGGGGG	XP_011514487.1:n.2392+17_2392+18insGGGGGGGGGGGGGG
XM_011516186.3:c.2692+17_2692+18insGGGGGGGGGGGGGG	XP_011514488.1:n.2692+17_2692+18insGGGGGGGGGGGGGG
XM_017012195.1:c.2542+17_2542+18insGGGGGGGGGGGGGG	XP_016867684.1:n.2542+17_2542+18insGGGGGGGGGGGGGG
XM_017012196.1:c.2515+17_2515+18insGGGGGGGGGGGGGG	XP_016867685.1:n.2515+17_2515+18insGGGGGGGGGGGGGG
NM_000238.4:c.2692+17_2692+18insGGGGGGGGGGGGGG MANE Select	NP_000229.1:n.2692+17_2692+18insGGGGGGGGGGGGGG
NM_172057.3:c.1672+17_1672+18insGGGGGGGGGGGGGG	NP_742054.1:n.1672+17_1672+18insGGGGGGGGGGGGGG