Canonical Allele Identifier: CA1108704945

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116936945
• gnomAD v3: 7-150948424-C-CAA
• gnomAD v4: 7-150948424-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948424_150948425insAA , CM000669.2:g.150948424_150948425insAA	GRCh38
NC_000007.13:g.150645512_150645513insAA , CM000669.1:g.150645512_150645513insAA	GRCh37
NC_000007.12:g.150276445_150276446insAA	NCBI36
NG_008916.1:g.34502_34503insTT , LRG_288:g.34502_34503insTT

Transcript Alleles

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