Canonical Allele Identifier: CA343989295

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716418A>C (hg19) ; chr1:g.196747288A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747288A>C , CM000663.2:g.196747288A>C	GRCh38
NC_000001.10:g.196716418A>C , CM000663.1:g.196716418A>C	GRCh37
NC_000001.9:g.194983041A>C	NCBI36
NG_007259.1:g.100278A>C , LRG_47:g.100278A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4699A>C
ENST00000695970.1:c.3497A>C	ENSP00000512297.1:p.Glu1166Ala
ENST00000695971.1:c.3650A>C	ENSP00000512298.1:p.Glu1217Ala
ENST00000695972.1:c.*748A>C	ENSP00000512299.1:n.*748A>C
ENST00000695973.1:c.*2035A>C	ENSP00000512300.1:n.*2035A>C
ENST00000695974.1:c.3494A>C	ENSP00000512301.1:p.Glu1165Ala
ENST00000695975.1:c.*1798A>C	ENSP00000512302.1:n.*1798A>C
ENST00000695976.1:c.3482A>C	ENSP00000512303.1:p.Glu1161Ala
ENST00000695981.1:c.3580+91A>C	ENSP00000512306.1:n.3580+91A>C
ENST00000695984.1:c.1679A>C	ENSP00000512309.1:p.Glu560Ala
ENST00000695986.1:c.*3322A>C	ENSP00000512311.1:n.*3322A>C
ENST00000695990.1:n.705A>C
ENST00000696026.1:c.*1953A>C	ENSP00000512335.1:n.*1953A>C
ENST00000696027.1:c.3665A>C	ENSP00000512336.1:p.Glu1222Ala
ENST00000696028.1:c.3599A>C	ENSP00000512337.1:p.Glu1200Ala
ENST00000696029.1:c.3665A>C	ENSP00000512338.1:p.Glu1222Ala
ENST00000696031.1:c.*3189A>C	ENSP00000512340.1:n.*3189A>C
ENST00000696032.1:c.3580+91A>C	ENSP00000512341.1:n.3580+91A>C
ENST00000696033.1:c.1160-32509A>C	ENSP00000512342.1:n.1160-32509A>C
ENST00000367429.9:c.3671A>C MANE Select	ENSP00000356399.4:p.Glu1224Ala
ENST00000367429.8:c.3671A>C	ENSP00000356399.4:p.Glu1224Ala
ENST00000466229.5:n.6769A>C
NM_000186.3:c.3671A>C , LRG_47t1:c.3671A>C	NP_000177.2:p.Glu1224Ala
XR_001737134.2:n.3857A>C
NM_000186.4:c.3671A>C MANE Select	NP_000177.2:p.Glu1224Ala