Canonical Allele Identifier: CA2685606889

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958016-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958017dup , CM000669.2:g.150958017dup	GRCh38
NC_000007.13:g.150655105dup , CM000669.1:g.150655105dup	GRCh37
NC_000007.12:g.150286038dup	NCBI36
NG_008916.1:g.24910dup , LRG_288:g.24910dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1749+42dup
ENST00000262186.10:c.916+42dup MANE Select	ENSP00000262186.5:n.916+42dup
ENST00000262186.9:c.916+42dup	ENSP00000262186.5:n.916+42dup
ENST00000430723.4:c.568+42dup	ENSP00000387657.4:n.568+42dup
ENST00000532957.5:n.1139+42dup
NM_000238.3:c.916+42dup , LRG_288t1:c.916+42dup	NP_000229.1:n.916+42dup
NM_172056.2:c.916+42dup , LRG_288t2:c.916+42dup	NP_742053.1:n.916+42dup
XM_011516185.1:c.616+42dup	XP_011514487.1:n.616+42dup
XM_011516186.1:c.916+42dup	XP_011514488.1:n.916+42dup
XM_011516185.2:c.616+42dup	XP_011514487.1:n.616+42dup
XM_011516186.3:c.916+42dup	XP_011514488.1:n.916+42dup
XM_017012195.1:c.766+42dup	XP_016867684.1:n.766+42dup
XM_017012196.1:c.739+42dup	XP_016867685.1:n.739+42dup
NM_000238.4:c.916+42dup MANE Select	NP_000229.1:n.916+42dup