Canonical Allele Identifier: CA2685606877

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977794-CGCCCCCAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977795_150977804del , CM000669.2:g.150977795_150977804del	GRCh38
NC_000007.13:g.150674883_150674892del , CM000669.1:g.150674883_150674892del	GRCh37
NC_000007.12:g.150305816_150305825del	NCBI36
NG_008916.1:g.5123_5132del , LRG_288:g.5123_5132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+34_76+43del MANE Select	ENSP00000262186.5:n.76+34_76+43del
ENST00000262186.9:c.76+34_76+43del	ENSP00000262186.5:n.76+34_76+43del
ENST00000430723.4:c.-102+34_-102+43del	ENSP00000387657.4:n.-102+34_-102+43del
ENST00000532957.5:n.299+34_299+43del
NM_000238.3:c.76+34_76+43del , LRG_288t1:c.76+34_76+43del	NP_000229.1:n.76+34_76+43del
NM_172056.2:c.76+34_76+43del , LRG_288t2:c.76+34_76+43del	NP_742053.1:n.76+34_76+43del
XM_011516186.1:c.76+34_76+43del	XP_011514488.1:n.76+34_76+43del
XM_011516186.3:c.76+34_76+43del	XP_011514488.1:n.76+34_76+43del
NM_000238.4:c.76+34_76+43del MANE Select	NP_000229.1:n.76+34_76+43del