Canonical Allele Identifier: CA2685606687

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977769-CATCCACACTCGGAAGAGCTCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977770_150977791del , CM000669.2:g.150977770_150977791del	GRCh38
NC_000007.13:g.150674858_150674879del , CM000669.1:g.150674858_150674879del	GRCh37
NC_000007.12:g.150305791_150305812del	NCBI36
NG_008916.1:g.5136_5157del , LRG_288:g.5136_5157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+47_76+68del MANE Select	ENSP00000262186.5:n.76+47_76+68del
ENST00000262186.9:c.76+47_76+68del	ENSP00000262186.5:n.76+47_76+68del
ENST00000430723.4:c.-102+47_-102+68del	ENSP00000387657.4:n.-102+47_-102+68del
ENST00000532957.5:n.299+47_299+68del
NM_000238.3:c.76+47_76+68del , LRG_288t1:c.76+47_76+68del	NP_000229.1:n.76+47_76+68del
NM_172056.2:c.76+47_76+68del , LRG_288t2:c.76+47_76+68del	NP_742053.1:n.76+47_76+68del
XM_011516186.1:c.76+47_76+68del	XP_011514488.1:n.76+47_76+68del
XM_011516186.3:c.76+47_76+68del	XP_011514488.1:n.76+47_76+68del
NM_000238.4:c.76+47_76+68del MANE Select	NP_000229.1:n.76+47_76+68del