Canonical Allele Identifier: CA2685602565

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948417-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948417_150948418insA , CM000669.2:g.150948417_150948418insA	GRCh38
NC_000007.13:g.150645505_150645506insA , CM000669.1:g.150645505_150645506insA	GRCh37
NC_000007.12:g.150276438_150276439insA	NCBI36
NG_008916.1:g.34509_34510insT , LRG_288:g.34509_34510insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+26_3525+27insT
ENST00000262186.10:c.2692+26_2692+27insT MANE Select	ENSP00000262186.5:n.2692+26_2692+27insT
ENST00000330883.9:c.1672+26_1672+27insT	ENSP00000328531.4:n.1672+26_1672+27insT
ENST00000262186.9:c.2692+26_2692+27insT	ENSP00000262186.5:n.2692+26_2692+27insT
ENST00000330883.8:c.1672+26_1672+27insT	ENSP00000328531.4:n.1672+26_1672+27insT
NM_000238.3:c.2692+26_2692+27insT , LRG_288t1:c.2692+26_2692+27insT	NP_000229.1:n.2692+26_2692+27insT
NM_172057.2:c.1672+26_1672+27insT , LRG_288t3:c.1672+26_1672+27insT	NP_742054.1:n.1672+26_1672+27insT
XM_011516185.1:c.2392+26_2392+27insT	XP_011514487.1:n.2392+26_2392+27insT
XM_011516186.1:c.2692+26_2692+27insT	XP_011514488.1:n.2692+26_2692+27insT
XM_011516185.2:c.2392+26_2392+27insT	XP_011514487.1:n.2392+26_2392+27insT
XM_011516186.3:c.2692+26_2692+27insT	XP_011514488.1:n.2692+26_2692+27insT
XM_017012195.1:c.2542+26_2542+27insT	XP_016867684.1:n.2542+26_2542+27insT
XM_017012196.1:c.2515+26_2515+27insT	XP_016867685.1:n.2515+26_2515+27insT
NM_000238.4:c.2692+26_2692+27insT MANE Select	NP_000229.1:n.2692+26_2692+27insT
NM_172057.3:c.1672+26_1672+27insT	NP_742054.1:n.1672+26_1672+27insT