Canonical Allele Identifier: CA343982786

Gene: CFH

Linked Data

• dbSNP Id: rs1157967976
• gnomAD v3: 1-196743461-G-A
• gnomAD v4: 1-196743461-G-A
• MyVariant Identifiers: chr1:g.196712591G>A (hg19) ; chr1:g.196743461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743461G>A , CM000663.2:g.196743461G>A	GRCh38
NC_000001.10:g.196712591G>A , CM000663.1:g.196712591G>A	GRCh37
NC_000001.9:g.194979214G>A	NCBI36
NG_007259.1:g.96451G>A , LRG_47:g.96451G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4171G>A
ENST00000695970.1:c.2969G>A	ENSP00000512297.1:p.Cys990Tyr
ENST00000695971.1:c.3122G>A	ENSP00000512298.1:p.Cys1041Tyr
ENST00000695972.1:c.*220G>A	ENSP00000512299.1:n.*220G>A
ENST00000695973.1:c.*1507G>A	ENSP00000512300.1:n.*1507G>A
ENST00000695974.1:c.2966G>A	ENSP00000512301.1:p.Cys989Tyr
ENST00000695975.1:c.*1270G>A	ENSP00000512302.1:n.*1270G>A
ENST00000695976.1:c.2954G>A	ENSP00000512303.1:p.Cys985Tyr
ENST00000695981.1:c.3143G>A	ENSP00000512306.1:p.Cys1048Tyr
ENST00000695984.1:c.1151G>A	ENSP00000512309.1:p.Cys384Tyr
ENST00000695986.1:c.*2794G>A	ENSP00000512311.1:n.*2794G>A
ENST00000696026.1:c.*1425G>A	ENSP00000512335.1:n.*1425G>A
ENST00000696027.1:c.3137G>A	ENSP00000512336.1:p.Cys1046Tyr
ENST00000696028.1:c.3071G>A	ENSP00000512337.1:p.Cys1024Tyr
ENST00000696029.1:c.3137G>A	ENSP00000512338.1:p.Cys1046Tyr
ENST00000696031.1:c.*2661G>A	ENSP00000512340.1:n.*2661G>A
ENST00000696032.1:c.3143G>A	ENSP00000512341.1:p.Cys1048Tyr
ENST00000696033.1:c.1160-36336G>A	ENSP00000512342.1:n.1160-36336G>A
ENST00000367429.9:c.3143G>A MANE Select	ENSP00000356399.4:p.Cys1048Tyr
ENST00000367429.8:c.3143G>A	ENSP00000356399.4:p.Cys1048Tyr
ENST00000466229.5:n.6241G>A
NM_000186.3:c.3143G>A , LRG_47t1:c.3143G>A	NP_000177.2:p.Cys1048Tyr
XR_001737134.2:n.3329G>A
NM_000186.4:c.3143G>A MANE Select	NP_000177.2:p.Cys1048Tyr