Canonical Allele Identifier: CA1108709196

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801921702
• gnomAD v3: 7-150974551-GGCCCCCGCCCGCGTCA-G
• gnomAD v4: 7-150974551-GGCCCCCGCCCGCGTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974552_150974567del , CM000669.2:g.150974552_150974567del	GRCh38
NC_000007.13:g.150671640_150671655del , CM000669.1:g.150671640_150671655del	GRCh37
NC_000007.12:g.150302573_150302588del	NCBI36
NG_008916.1:g.8360_8375del , LRG_288:g.8360_8375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+144_307+159del MANE Select	ENSP00000262186.5:n.307+144_307+159del
ENST00000262186.9:c.307+144_307+159del	ENSP00000262186.5:n.307+144_307+159del
ENST00000430723.4:c.130+144_130+159del	ENSP00000387657.4:n.130+144_130+159del
ENST00000532957.5:n.530+144_530+159del
NM_000238.3:c.307+144_307+159del , LRG_288t1:c.307+144_307+159del	NP_000229.1:n.307+144_307+159del
NM_172056.2:c.307+144_307+159del , LRG_288t2:c.307+144_307+159del	NP_742053.1:n.307+144_307+159del
XM_011516186.1:c.307+144_307+159del	XP_011514488.1:n.307+144_307+159del
XM_011516186.3:c.307+144_307+159del	XP_011514488.1:n.307+144_307+159del
XM_017012196.1:c.130+144_130+159del	XP_016867685.1:n.130+144_130+159del
NM_000238.4:c.307+144_307+159del MANE Select	NP_000229.1:n.307+144_307+159del