Canonical Allele Identifier: CA2685602853

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974579-AACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974589_150974645del , CM000669.2:g.150974589_150974645del	GRCh38
NC_000007.13:g.150671677_150671733del , CM000669.1:g.150671677_150671733del	GRCh37
NC_000007.12:g.150302610_150302666del	NCBI36
NG_008916.1:g.8291_8347del , LRG_288:g.8291_8347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+75_307+131del MANE Select	ENSP00000262186.5:n.307+75_307+131del
ENST00000262186.9:c.307+75_307+131del	ENSP00000262186.5:n.307+75_307+131del
ENST00000430723.4:c.130+75_130+131del	ENSP00000387657.4:n.130+75_130+131del
ENST00000532957.5:n.530+75_530+131del
NM_000238.3:c.307+75_307+131del , LRG_288t1:c.307+75_307+131del	NP_000229.1:n.307+75_307+131del
NM_172056.2:c.307+75_307+131del , LRG_288t2:c.307+75_307+131del	NP_742053.1:n.307+75_307+131del
XM_011516186.1:c.307+75_307+131del	XP_011514488.1:n.307+75_307+131del
XM_011516186.3:c.307+75_307+131del	XP_011514488.1:n.307+75_307+131del
XM_017012196.1:c.130+75_130+131del	XP_016867685.1:n.130+75_130+131del
NM_000238.4:c.307+75_307+131del MANE Select	NP_000229.1:n.307+75_307+131del