Canonical Allele Identifier: CA1305597

Gene: CFH

Linked Data

• ClinVar Variation Id: 294499
• ClinVar RCV Id: RCV000260677 ; RCV000265889 ; RCV000316028 ; RCV000356749 ; RCV002059407
• dbSNP Id: rs144325643
• ExAC: 1:196696030 G / A
• gnomAD v2: 1-196696030-G-A
• gnomAD v3: 1-196726900-G-A
• gnomAD v4: 1-196726900-G-A
• MyVariant Identifiers: chr1:g.196696030G>A (hg19) ; chr1:g.196726900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196726900G>A , CM000663.2:g.196726900G>A	GRCh38
NC_000001.10:g.196696030G>A , CM000663.1:g.196696030G>A	GRCh37
NC_000001.9:g.194962653G>A	NCBI36
NG_007259.1:g.79890G>A , LRG_47:g.79890G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2462G>A
ENST00000695969.1:c.2196G>A	ENSP00000512296.1:p.Thr732=
ENST00000695970.1:c.2196G>A	ENSP00000512297.1:p.Thr732=
ENST00000695971.1:c.2175G>A	ENSP00000512298.1:p.Thr725=
ENST00000695972.1:c.2196G>A	ENSP00000512299.1:p.Thr732=
ENST00000695973.1:c.*560G>A	ENSP00000512300.1:n.*560G>A
ENST00000695974.1:c.2019G>A	ENSP00000512301.1:p.Thr673=
ENST00000695975.1:c.*323G>A	ENSP00000512302.1:n.*323G>A
ENST00000695976.1:c.2007G>A	ENSP00000512303.1:p.Thr669=
ENST00000695981.1:c.2196G>A	ENSP00000512306.1:p.Thr732=
ENST00000695983.1:c.2196G>A	ENSP00000512308.1:p.Thr732=
ENST00000695984.1:c.245-1446G>A	ENSP00000512309.1:n.245-1446G>A
ENST00000695986.1:c.*1847G>A	ENSP00000512311.1:n.*1847G>A
ENST00000696025.1:n.2280G>A
ENST00000696026.1:c.*478G>A	ENSP00000512335.1:n.*478G>A
ENST00000696027.1:c.2196G>A	ENSP00000512336.1:p.Thr732=
ENST00000696028.1:c.2196G>A	ENSP00000512337.1:p.Thr732=
ENST00000696029.1:c.2196G>A	ENSP00000512338.1:p.Thr732=
ENST00000696031.1:c.*1714G>A	ENSP00000512340.1:n.*1714G>A
ENST00000696032.1:c.2196G>A	ENSP00000512341.1:p.Thr732=
ENST00000696033.1:c.1159+37286G>A	ENSP00000512342.1:n.1159+37286G>A
ENST00000367429.9:c.2196G>A MANE Select	ENSP00000356399.4:p.Thr732=
ENST00000367429.8:c.2196G>A	ENSP00000356399.4:p.Thr732=
ENST00000466229.5:n.4212G>A
NM_000186.3:c.2196G>A , LRG_47t1:c.2196G>A	NP_000177.2:p.Thr732=
XR_001737134.2:n.2382G>A
NM_000186.4:c.2196G>A MANE Select	NP_000177.2:p.Thr732=