Canonical Allele Identifier: CA343989183

Gene: CFH

Linked Data

• COSMIC: COSM4606782
• MyVariant Identifiers: chr1:g.196716405G>A (hg19) ; chr1:g.196747275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747275G>A , CM000663.2:g.196747275G>A	GRCh38
NC_000001.10:g.196716405G>A , CM000663.1:g.196716405G>A	GRCh37
NC_000001.9:g.194983028G>A	NCBI36
NG_007259.1:g.100265G>A , LRG_47:g.100265G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4686G>A
ENST00000695970.1:c.3484G>A	ENSP00000512297.1:p.Asp1162Asn
ENST00000695971.1:c.3637G>A	ENSP00000512298.1:p.Asp1213Asn
ENST00000695972.1:c.*735G>A	ENSP00000512299.1:n.*735G>A
ENST00000695973.1:c.*2022G>A	ENSP00000512300.1:n.*2022G>A
ENST00000695974.1:c.3481G>A	ENSP00000512301.1:p.Asp1161Asn
ENST00000695975.1:c.*1785G>A	ENSP00000512302.1:n.*1785G>A
ENST00000695976.1:c.3469G>A	ENSP00000512303.1:p.Asp1157Asn
ENST00000695981.1:c.3580+78G>A	ENSP00000512306.1:n.3580+78G>A
ENST00000695984.1:c.1666G>A	ENSP00000512309.1:p.Asp556Asn
ENST00000695986.1:c.*3309G>A	ENSP00000512311.1:n.*3309G>A
ENST00000695990.1:n.692G>A
ENST00000696026.1:c.*1940G>A	ENSP00000512335.1:n.*1940G>A
ENST00000696027.1:c.3652G>A	ENSP00000512336.1:p.Asp1218Asn
ENST00000696028.1:c.3586G>A	ENSP00000512337.1:p.Asp1196Asn
ENST00000696029.1:c.3652G>A	ENSP00000512338.1:p.Asp1218Asn
ENST00000696031.1:c.*3176G>A	ENSP00000512340.1:n.*3176G>A
ENST00000696032.1:c.3580+78G>A	ENSP00000512341.1:n.3580+78G>A
ENST00000696033.1:c.1160-32522G>A	ENSP00000512342.1:n.1160-32522G>A
ENST00000367429.9:c.3658G>A MANE Select	ENSP00000356399.4:p.Asp1220Asn
ENST00000367429.8:c.3658G>A	ENSP00000356399.4:p.Asp1220Asn
ENST00000466229.5:n.6756G>A
NM_000186.3:c.3658G>A , LRG_47t1:c.3658G>A	NP_000177.2:p.Asp1220Asn
XR_001737134.2:n.3844G>A
NM_000186.4:c.3658G>A MANE Select	NP_000177.2:p.Asp1220Asn