Canonical Allele Identifier: CA1752441934

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801947748
• gnomAD v4: 7-150975075-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975075_150975076insT , CM000669.2:g.150975075_150975076insT	GRCh38
NC_000007.13:g.150672163_150672164insT , CM000669.1:g.150672163_150672164insT	GRCh37
NC_000007.12:g.150303096_150303097insT	NCBI36
NG_008916.1:g.7851_7852insA , LRG_288:g.7851_7852insA

Transcript Alleles

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