Canonical Allele Identifier: CA2685602620

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948423-T-TACAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948423_150948424insACAAC , CM000669.2:g.150948423_150948424insACAAC	GRCh38
NC_000007.13:g.150645511_150645512insACAAC , CM000669.1:g.150645511_150645512insACAAC	GRCh37
NC_000007.12:g.150276444_150276445insACAAC	NCBI36
NG_008916.1:g.34503_34504insGTTGT , LRG_288:g.34503_34504insGTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+20_3525+21insGTTGT
ENST00000262186.10:c.2692+20_2692+21insGTTGT MANE Select	ENSP00000262186.5:n.2692+20_2692+21insGTTGT
ENST00000330883.9:c.1672+20_1672+21insGTTGT	ENSP00000328531.4:n.1672+20_1672+21insGTTGT
ENST00000262186.9:c.2692+20_2692+21insGTTGT	ENSP00000262186.5:n.2692+20_2692+21insGTTGT
ENST00000330883.8:c.1672+20_1672+21insGTTGT	ENSP00000328531.4:n.1672+20_1672+21insGTTGT
NM_000238.3:c.2692+20_2692+21insGTTGT , LRG_288t1:c.2692+20_2692+21insGTTGT	NP_000229.1:n.2692+20_2692+21insGTTGT
NM_172057.2:c.1672+20_1672+21insGTTGT , LRG_288t3:c.1672+20_1672+21insGTTGT	NP_742054.1:n.1672+20_1672+21insGTTGT
XM_011516185.1:c.2392+20_2392+21insGTTGT	XP_011514487.1:n.2392+20_2392+21insGTTGT
XM_011516186.1:c.2692+20_2692+21insGTTGT	XP_011514488.1:n.2692+20_2692+21insGTTGT
XM_011516185.2:c.2392+20_2392+21insGTTGT	XP_011514487.1:n.2392+20_2392+21insGTTGT
XM_011516186.3:c.2692+20_2692+21insGTTGT	XP_011514488.1:n.2692+20_2692+21insGTTGT
XM_017012195.1:c.2542+20_2542+21insGTTGT	XP_016867684.1:n.2542+20_2542+21insGTTGT
XM_017012196.1:c.2515+20_2515+21insGTTGT	XP_016867685.1:n.2515+20_2515+21insGTTGT
NM_000238.4:c.2692+20_2692+21insGTTGT MANE Select	NP_000229.1:n.2692+20_2692+21insGTTGT
NM_172057.3:c.1672+20_1672+21insGTTGT	NP_742054.1:n.1672+20_1672+21insGTTGT