Canonical Allele Identifier: CA2685602631

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948424-C-CACA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948424_150948425insACA , CM000669.2:g.150948424_150948425insACA	GRCh38
NC_000007.13:g.150645512_150645513insACA , CM000669.1:g.150645512_150645513insACA	GRCh37
NC_000007.12:g.150276445_150276446insACA	NCBI36
NG_008916.1:g.34502_34503insTGT , LRG_288:g.34502_34503insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+19_3525+20insTGT
ENST00000262186.10:c.2692+19_2692+20insTGT MANE Select	ENSP00000262186.5:n.2692+19_2692+20insTGT
ENST00000330883.9:c.1672+19_1672+20insTGT	ENSP00000328531.4:n.1672+19_1672+20insTGT
ENST00000262186.9:c.2692+19_2692+20insTGT	ENSP00000262186.5:n.2692+19_2692+20insTGT
ENST00000330883.8:c.1672+19_1672+20insTGT	ENSP00000328531.4:n.1672+19_1672+20insTGT
NM_000238.3:c.2692+19_2692+20insTGT , LRG_288t1:c.2692+19_2692+20insTGT	NP_000229.1:n.2692+19_2692+20insTGT
NM_172057.2:c.1672+19_1672+20insTGT , LRG_288t3:c.1672+19_1672+20insTGT	NP_742054.1:n.1672+19_1672+20insTGT
XM_011516185.1:c.2392+19_2392+20insTGT	XP_011514487.1:n.2392+19_2392+20insTGT
XM_011516186.1:c.2692+19_2692+20insTGT	XP_011514488.1:n.2692+19_2692+20insTGT
XM_011516185.2:c.2392+19_2392+20insTGT	XP_011514487.1:n.2392+19_2392+20insTGT
XM_011516186.3:c.2692+19_2692+20insTGT	XP_011514488.1:n.2692+19_2692+20insTGT
XM_017012195.1:c.2542+19_2542+20insTGT	XP_016867684.1:n.2542+19_2542+20insTGT
XM_017012196.1:c.2515+19_2515+20insTGT	XP_016867685.1:n.2515+19_2515+20insTGT
NM_000238.4:c.2692+19_2692+20insTGT MANE Select	NP_000229.1:n.2692+19_2692+20insTGT
NM_172057.3:c.1672+19_1672+20insTGT	NP_742054.1:n.1672+19_1672+20insTGT