Canonical Allele Identifier: CA1108709203

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801921900
• gnomAD v3: 7-150974554-CCCCG-C
• gnomAD v4: 7-150974554-CCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974560_150974563del , CM000669.2:g.150974560_150974563del	GRCh38
NC_000007.13:g.150671648_150671651del , CM000669.1:g.150671648_150671651del	GRCh37
NC_000007.12:g.150302581_150302584del	NCBI36
NG_008916.1:g.8369_8372del , LRG_288:g.8369_8372del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+153_307+156del MANE Select	ENSP00000262186.5:n.307+153_307+156del
ENST00000262186.9:c.307+153_307+156del	ENSP00000262186.5:n.307+153_307+156del
ENST00000430723.4:c.130+153_130+156del	ENSP00000387657.4:n.130+153_130+156del
ENST00000532957.5:n.530+153_530+156del
NM_000238.3:c.307+153_307+156del , LRG_288t1:c.307+153_307+156del	NP_000229.1:n.307+153_307+156del
NM_172056.2:c.307+153_307+156del , LRG_288t2:c.307+153_307+156del	NP_742053.1:n.307+153_307+156del
XM_011516186.1:c.307+153_307+156del	XP_011514488.1:n.307+153_307+156del
XM_011516186.3:c.307+153_307+156del	XP_011514488.1:n.307+153_307+156del
XM_017012196.1:c.130+153_130+156del	XP_016867685.1:n.130+153_130+156del
NM_000238.4:c.307+153_307+156del MANE Select	NP_000229.1:n.307+153_307+156del