Canonical Allele Identifier: CA2685603616

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974638-C-CCCTGCCCCTCGCCGTGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974641_150974658dup , CM000669.2:g.150974641_150974658dup	GRCh38
NC_000007.13:g.150671729_150671746dup , CM000669.1:g.150671729_150671746dup	GRCh37
NC_000007.12:g.150302662_150302679dup	NCBI36
NG_008916.1:g.8271_8288dup , LRG_288:g.8271_8288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+55_307+72dup MANE Select	ENSP00000262186.5:n.307+55_307+72dup
ENST00000262186.9:c.307+55_307+72dup	ENSP00000262186.5:n.307+55_307+72dup
ENST00000430723.4:c.130+55_130+72dup	ENSP00000387657.4:n.130+55_130+72dup
ENST00000532957.5:n.530+55_530+72dup
NM_000238.3:c.307+55_307+72dup , LRG_288t1:c.307+55_307+72dup	NP_000229.1:n.307+55_307+72dup
NM_172056.2:c.307+55_307+72dup , LRG_288t2:c.307+55_307+72dup	NP_742053.1:n.307+55_307+72dup
XM_011516186.1:c.307+55_307+72dup	XP_011514488.1:n.307+55_307+72dup
XM_011516186.3:c.307+55_307+72dup	XP_011514488.1:n.307+55_307+72dup
XM_017012196.1:c.130+55_130+72dup	XP_016867685.1:n.130+55_130+72dup
NM_000238.4:c.307+55_307+72dup MANE Select	NP_000229.1:n.307+55_307+72dup