Canonical Allele Identifier: CA2579063126

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977789-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977791dup , CM000669.2:g.150977791dup	GRCh38
NC_000007.13:g.150674879dup , CM000669.1:g.150674879dup	GRCh37
NC_000007.12:g.150305812dup	NCBI36
NG_008916.1:g.5137dup , LRG_288:g.5137dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+48dup MANE Select	ENSP00000262186.5:n.76+48dup
ENST00000262186.9:c.76+48dup	ENSP00000262186.5:n.76+48dup
ENST00000430723.4:c.-102+48dup	ENSP00000387657.4:n.-102+48dup
ENST00000532957.5:n.299+48dup
NM_000238.3:c.76+48dup , LRG_288t1:c.76+48dup	NP_000229.1:n.76+48dup
NM_172056.2:c.76+48dup , LRG_288t2:c.76+48dup	NP_742053.1:n.76+48dup
XM_011516186.1:c.76+48dup	XP_011514488.1:n.76+48dup
XM_011516186.3:c.76+48dup	XP_011514488.1:n.76+48dup
NM_000238.4:c.76+48dup MANE Select	NP_000229.1:n.76+48dup