Canonical Allele Identifier: CA169091587

Gene: KCNH2

Linked Data

• dbSNP Id: rs192037974
• gnomAD v3: 7-150977260-G-T
• gnomAD v4: 7-150977260-G-T
• MyVariant Identifiers: chr7:g.150977260G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977260G>T , CM000669.2:g.150977260G>T	GRCh38
NC_000007.13:g.150674348G>T , CM000669.1:g.150674348G>T	GRCh37
NC_000007.12:g.150305281G>T	NCBI36
NG_008916.1:g.5667C>A , LRG_288:g.5667C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.76+578C>A MANE Select	ENSP00000262186.5:n.76+578C>A
ENST00000262186.9:c.76+578C>A	ENSP00000262186.5:n.76+578C>A
ENST00000430723.4:c.-102+578C>A	ENSP00000387657.4:n.-102+578C>A
ENST00000532957.5:n.299+578C>A
NM_000238.3:c.76+578C>A , LRG_288t1:c.76+578C>A	NP_000229.1:n.76+578C>A
NM_172056.2:c.76+578C>A , LRG_288t2:c.76+578C>A	NP_742053.1:n.76+578C>A
XM_011516186.1:c.76+578C>A	XP_011514488.1:n.76+578C>A
XM_011516186.3:c.76+578C>A	XP_011514488.1:n.76+578C>A
NM_000238.4:c.76+578C>A MANE Select	NP_000229.1:n.76+578C>A