Canonical Allele Identifier: CA2685602828

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974569-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974574del , CM000669.2:g.150974574del	GRCh38
NC_000007.13:g.150671662del , CM000669.1:g.150671662del	GRCh37
NC_000007.12:g.150302595del	NCBI36
NG_008916.1:g.8357del , LRG_288:g.8357del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+141del MANE Select	ENSP00000262186.5:n.307+141del
ENST00000262186.9:c.307+141del	ENSP00000262186.5:n.307+141del
ENST00000430723.4:c.130+141del	ENSP00000387657.4:n.130+141del
ENST00000532957.5:n.530+141del
NM_000238.3:c.307+141del , LRG_288t1:c.307+141del	NP_000229.1:n.307+141del
NM_172056.2:c.307+141del , LRG_288t2:c.307+141del	NP_742053.1:n.307+141del
XM_011516186.1:c.307+141del	XP_011514488.1:n.307+141del
XM_011516186.3:c.307+141del	XP_011514488.1:n.307+141del
XM_017012196.1:c.130+141del	XP_016867685.1:n.130+141del
NM_000238.4:c.307+141del MANE Select	NP_000229.1:n.307+141del