Canonical Allele Identifier: CA2685609574

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958575-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958580dup , CM000669.2:g.150958580dup	GRCh38
NC_000007.13:g.150655668dup , CM000669.1:g.150655668dup	GRCh37
NC_000007.12:g.150286601dup	NCBI36
NG_008916.1:g.24351dup , LRG_288:g.24351dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-74dup
ENST00000262186.10:c.473-74dup MANE Select	ENSP00000262186.5:n.473-74dup
ENST00000262186.9:c.473-74dup	ENSP00000262186.5:n.473-74dup
ENST00000430723.4:c.235-184dup	ENSP00000387657.4:n.235-184dup
ENST00000532957.5:n.696-74dup
NM_000238.3:c.473-74dup , LRG_288t1:c.473-74dup	NP_000229.1:n.473-74dup
NM_172056.2:c.473-74dup , LRG_288t2:c.473-74dup	NP_742053.1:n.473-74dup
XM_011516185.1:c.173-74dup	XP_011514487.1:n.173-74dup
XM_011516186.1:c.473-74dup	XP_011514488.1:n.473-74dup
XM_011516185.2:c.173-74dup	XP_011514487.1:n.173-74dup
XM_011516186.3:c.473-74dup	XP_011514488.1:n.473-74dup
XM_017012195.1:c.323-74dup	XP_016867684.1:n.323-74dup
XM_017012196.1:c.296-74dup	XP_016867685.1:n.296-74dup
NM_000238.4:c.473-74dup MANE Select	NP_000229.1:n.473-74dup