Canonical Allele Identifier: CA458644998

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 764702
• ClinVar RCV Id: RCV001463583
• dbSNP Id: rs201765446
• gnomAD v4: 7-150948489-G-T
• MyVariant Identifiers: chr7:g.150645577G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948489G>T , CM000669.2:g.150948489G>T	GRCh38
NC_000007.13:g.150645577G>T , CM000669.1:g.150645577G>T	GRCh37
NC_000007.12:g.150276510G>T	NCBI36
NG_008916.1:g.34438C>A , LRG_288:g.34438C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3480C>A
ENST00000262186.10:c.2647C>A MANE Select	ENSP00000262186.5:p.Arg883=
ENST00000330883.9:c.1627C>A	ENSP00000328531.4:p.Arg543=
ENST00000262186.9:c.2647C>A	ENSP00000262186.5:p.Arg883=
ENST00000330883.8:c.1627C>A	ENSP00000328531.4:p.Arg543=
NM_000238.3:c.2647C>A , LRG_288t1:c.2647C>A	NP_000229.1:p.Arg883=
NM_172057.2:c.1627C>A , LRG_288t3:c.1627C>A	NP_742054.1:p.Arg543=
XM_011516185.1:c.2347C>A	XP_011514487.1:p.Arg783=
XM_011516186.1:c.2647C>A	XP_011514488.1:p.Arg883=
XM_011516185.2:c.2347C>A	XP_011514487.1:p.Arg783=
XM_011516186.3:c.2647C>A	XP_011514488.1:p.Arg883=
XM_017012195.1:c.2497C>A	XP_016867684.1:p.Arg833=
XM_017012196.1:c.2470C>A	XP_016867685.1:p.Arg824=
NM_000238.4:c.2647C>A MANE Select	NP_000229.1:p.Arg883=
NM_172057.3:c.1627C>A	NP_742054.1:p.Arg543=