Canonical Allele Identifier: CA343989152

Gene: CFH

Linked Data

• ClinVar Variation Id: 522442
• ClinVar RCV Id: RCV000625583 ; RCV003669163 ; RCV003333088
• dbSNP Id: rs1553270437
• COSMIC: COSM4553403
• MyVariant Identifiers: chr1:g.196621305G>A (hg19) ; chr1:g.196652175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196652175G>A , CM000663.2:g.196652175G>A	GRCh38
NC_000001.10:g.196621305G>A , CM000663.1:g.196621305G>A	GRCh37
NC_000001.9:g.194887928G>A	NCBI36
NG_007259.1:g.5165G>A , LRG_47:g.5165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.58G>A	ENSP00000352658.2:p.Asp20Asn
ENST00000470918.2:n.324G>A
ENST00000496761.2:n.121G>A
ENST00000695968.1:c.58G>A	ENSP00000512295.1:p.Asp20Asn
ENST00000695969.1:c.58G>A	ENSP00000512296.1:p.Asp20Asn
ENST00000695970.1:c.58G>A	ENSP00000512297.1:p.Asp20Asn
ENST00000695971.1:c.58G>A	ENSP00000512298.1:p.Asp20Asn
ENST00000695972.1:c.58G>A	ENSP00000512299.1:p.Asp20Asn
ENST00000695973.1:c.58G>A	ENSP00000512300.1:p.Asp20Asn
ENST00000695974.1:c.58G>A	ENSP00000512301.1:p.Asp20Asn
ENST00000695975.1:c.58G>A	ENSP00000512302.1:p.Asp20Asn
ENST00000695976.1:c.-186G>A	ENSP00000512303.1:n.-186G>A
ENST00000695978.1:c.58G>A	ENSP00000512304.1:p.Asp20Asn
ENST00000695979.1:c.58G>A	ENSP00000512305.1:p.Asp20Asn
ENST00000695980.1:n.178G>A
ENST00000695981.1:c.58G>A	ENSP00000512306.1:p.Asp20Asn
ENST00000695983.1:c.58G>A	ENSP00000512308.1:p.Asp20Asn
ENST00000695984.1:c.58G>A	ENSP00000512309.1:p.Asp20Asn
ENST00000695986.1:c.58G>A	ENSP00000512311.1:p.Asp20Asn
ENST00000696018.1:n.142G>A
ENST00000696019.1:n.142G>A
ENST00000696020.1:n.142G>A
ENST00000696021.1:n.142G>A
ENST00000696022.1:n.142G>A
ENST00000696023.1:c.58G>A	ENSP00000512334.1:p.Asp20Asn
ENST00000696024.1:n.142G>A
ENST00000696025.1:n.142G>A
ENST00000696026.1:c.58G>A	ENSP00000512335.1:p.Asp20Asn
ENST00000696027.1:c.58G>A	ENSP00000512336.1:p.Asp20Asn
ENST00000696028.1:c.58G>A	ENSP00000512337.1:p.Asp20Asn
ENST00000696029.1:c.58G>A	ENSP00000512338.1:p.Asp20Asn
ENST00000696030.1:c.58G>A	ENSP00000512339.1:p.Asp20Asn
ENST00000696031.1:c.58G>A	ENSP00000512340.1:p.Asp20Asn
ENST00000696032.1:c.58G>A	ENSP00000512341.1:p.Asp20Asn
ENST00000696033.1:c.58G>A	ENSP00000512342.1:p.Asp20Asn
ENST00000367429.9:c.58G>A MANE Select	ENSP00000356399.4:p.Asp20Asn
ENST00000359637.2:c.58G>A	ENSP00000352658.2:p.Asp20Asn
ENST00000367429.8:c.58G>A	ENSP00000356399.4:p.Asp20Asn
ENST00000496761.1:n.120G>A
ENST00000630130.2:c.58G>A	ENSP00000487250.1:p.Asp20Asn
NM_000186.3:c.58G>A , LRG_47t1:c.58G>A	NP_000177.2:p.Asp20Asn
NM_001014975.2:c.58G>A	NP_001014975.1:p.Asp20Asn
XM_017001108.2:c.58G>A	XP_016856597.1:p.Asp20Asn
XR_001737134.2:n.143G>A
NM_000186.4:c.58G>A MANE Select	NP_000177.2:p.Asp20Asn
NM_001014975.3:c.58G>A	NP_001014975.1:p.Asp20Asn