Canonical Allele Identifier: CA2685605961

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150975075-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975075_150975076insA , CM000669.2:g.150975075_150975076insA	GRCh38
NC_000007.13:g.150672163_150672164insA , CM000669.1:g.150672163_150672164insA	GRCh37
NC_000007.12:g.150303096_150303097insA	NCBI36
NG_008916.1:g.7851_7852insT , LRG_288:g.7851_7852insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-135_77-134insT MANE Select	ENSP00000262186.5:n.77-135_77-134insT
ENST00000262186.9:c.77-135_77-134insT	ENSP00000262186.5:n.77-135_77-134insT
ENST00000430723.4:c.-101-135_-101-134insT	ENSP00000387657.4:n.-101-135_-101-134insT
ENST00000532957.5:n.300-135_300-134insT
NM_000238.3:c.77-135_77-134insT , LRG_288t1:c.77-135_77-134insT	NP_000229.1:n.77-135_77-134insT
NM_172056.2:c.77-135_77-134insT , LRG_288t2:c.77-135_77-134insT	NP_742053.1:n.77-135_77-134insT
XM_011516186.1:c.77-135_77-134insT	XP_011514488.1:n.77-135_77-134insT
XM_011516186.3:c.77-135_77-134insT	XP_011514488.1:n.77-135_77-134insT
NM_000238.4:c.77-135_77-134insT MANE Select	NP_000229.1:n.77-135_77-134insT