Canonical Allele Identifier: CA2685607008

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977801-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977802del , CM000669.2:g.150977802del	GRCh38
NC_000007.13:g.150674890del , CM000669.1:g.150674890del	GRCh37
NC_000007.12:g.150305823del	NCBI36
NG_008916.1:g.5125del , LRG_288:g.5125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+36del MANE Select	ENSP00000262186.5:n.76+36del
ENST00000262186.9:c.76+36del	ENSP00000262186.5:n.76+36del
ENST00000430723.4:c.-102+36del	ENSP00000387657.4:n.-102+36del
ENST00000532957.5:n.299+36del
NM_000238.3:c.76+36del , LRG_288t1:c.76+36del	NP_000229.1:n.76+36del
NM_172056.2:c.76+36del , LRG_288t2:c.76+36del	NP_742053.1:n.76+36del
XM_011516186.1:c.76+36del	XP_011514488.1:n.76+36del
XM_011516186.3:c.76+36del	XP_011514488.1:n.76+36del
NM_000238.4:c.76+36del MANE Select	NP_000229.1:n.76+36del