Canonical Allele Identifier: CA1108704816

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800980189
• gnomAD v3: 7-150947944-G-GA
• gnomAD v4: 7-150947944-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947944_150947945insA , CM000669.2:g.150947944_150947945insA	GRCh38
NC_000007.13:g.150645032_150645033insA , CM000669.1:g.150645032_150645033insA	GRCh37
NC_000007.12:g.150275965_150275966insA	NCBI36
NG_008916.1:g.34982_34983insT , LRG_288:g.34982_34983insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-67_3526-66insT
ENST00000262186.10:c.2693-67_2693-66insT MANE Select	ENSP00000262186.5:n.2693-67_2693-66insT
ENST00000330883.9:c.1673-67_1673-66insT	ENSP00000328531.4:n.1673-67_1673-66insT
ENST00000262186.9:c.2693-67_2693-66insT	ENSP00000262186.5:n.2693-67_2693-66insT
ENST00000330883.8:c.1673-67_1673-66insT	ENSP00000328531.4:n.1673-67_1673-66insT
NM_000238.3:c.2693-67_2693-66insT , LRG_288t1:c.2693-67_2693-66insT	NP_000229.1:n.2693-67_2693-66insT
NM_172057.2:c.1673-67_1673-66insT , LRG_288t3:c.1673-67_1673-66insT	NP_742054.1:n.1673-67_1673-66insT
XM_011516185.1:c.2393-67_2393-66insT	XP_011514487.1:n.2393-67_2393-66insT
XM_011516186.1:c.2693-254_2693-253insT	XP_011514488.1:n.2693-254_2693-253insT
XM_011516185.2:c.2393-67_2393-66insT	XP_011514487.1:n.2393-67_2393-66insT
XM_011516186.3:c.2693-254_2693-253insT	XP_011514488.1:n.2693-254_2693-253insT
XM_017012195.1:c.2543-67_2543-66insT	XP_016867684.1:n.2543-67_2543-66insT
XM_017012196.1:c.2516-67_2516-66insT	XP_016867685.1:n.2516-67_2516-66insT
NM_000238.4:c.2693-67_2693-66insT MANE Select	NP_000229.1:n.2693-67_2693-66insT
NM_172057.3:c.1673-67_1673-66insT	NP_742054.1:n.1673-67_1673-66insT