Canonical Allele Identifier: CA578707851

Gene: KCNH2

Linked Data

• dbSNP Id: rs1554431408
• gnomAD v2: 7-150674879-G-GCC
• gnomAD v4: 7-150977791-G-GCC
• MyVariant Identifiers: chr7:g.150674879_150674880insCC (hg19) ; chr7:g.150977791_150977792insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977793_150977794dup , CM000669.2:g.150977793_150977794dup	GRCh38
NC_000007.13:g.150674881_150674882dup , CM000669.1:g.150674881_150674882dup	GRCh37
NC_000007.12:g.150305814_150305815dup	NCBI36
NG_008916.1:g.5134_5135dup , LRG_288:g.5134_5135dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+45_76+46dup MANE Select	ENSP00000262186.5:n.76+45_76+46dup
ENST00000262186.9:c.76+45_76+46dup	ENSP00000262186.5:n.76+45_76+46dup
ENST00000430723.4:c.-102+45_-102+46dup	ENSP00000387657.4:n.-102+45_-102+46dup
ENST00000532957.5:n.299+45_299+46dup
NM_000238.3:c.76+45_76+46dup , LRG_288t1:c.76+45_76+46dup	NP_000229.1:n.76+45_76+46dup
NM_172056.2:c.76+45_76+46dup , LRG_288t2:c.76+45_76+46dup	NP_742053.1:n.76+45_76+46dup
XM_011516186.1:c.76+45_76+46dup	XP_011514488.1:n.76+45_76+46dup
XM_011516186.3:c.76+45_76+46dup	XP_011514488.1:n.76+45_76+46dup
NM_000238.4:c.76+45_76+46dup MANE Select	NP_000229.1:n.76+45_76+46dup