Canonical Allele Identifier: CA1108704872

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800996577
• gnomAD v3: 7-150948372-GCCCAC-G
• gnomAD v4: 7-150948372-GCCCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948376_150948380del , CM000669.2:g.150948376_150948380del	GRCh38
NC_000007.13:g.150645464_150645468del , CM000669.1:g.150645464_150645468del	GRCh37
NC_000007.12:g.150276397_150276401del	NCBI36
NG_008916.1:g.34550_34554del , LRG_288:g.34550_34554del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3525+67_3525+71del
ENST00000262186.10:c.2692+67_2692+71del MANE Select	ENSP00000262186.5:n.2692+67_2692+71del
ENST00000330883.9:c.1672+67_1672+71del	ENSP00000328531.4:n.1672+67_1672+71del
ENST00000262186.9:c.2692+67_2692+71del	ENSP00000262186.5:n.2692+67_2692+71del
ENST00000330883.8:c.1672+67_1672+71del	ENSP00000328531.4:n.1672+67_1672+71del
NM_000238.3:c.2692+67_2692+71del , LRG_288t1:c.2692+67_2692+71del	NP_000229.1:n.2692+67_2692+71del
NM_172057.2:c.1672+67_1672+71del , LRG_288t3:c.1672+67_1672+71del	NP_742054.1:n.1672+67_1672+71del
XM_011516185.1:c.2392+67_2392+71del	XP_011514487.1:n.2392+67_2392+71del
XM_011516186.1:c.2692+67_2692+71del	XP_011514488.1:n.2692+67_2692+71del
XM_011516185.2:c.2392+67_2392+71del	XP_011514487.1:n.2392+67_2392+71del
XM_011516186.3:c.2692+67_2692+71del	XP_011514488.1:n.2692+67_2692+71del
XM_017012195.1:c.2542+67_2542+71del	XP_016867684.1:n.2542+67_2542+71del
XM_017012196.1:c.2515+67_2515+71del	XP_016867685.1:n.2515+67_2515+71del
NM_000238.4:c.2692+67_2692+71del MANE Select	NP_000229.1:n.2692+67_2692+71del
NM_172057.3:c.1672+67_1672+71del	NP_742054.1:n.1672+67_1672+71del