Canonical Allele Identifier: CA343989455

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716429T>C (hg19) ; chr1:g.196747299T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747299T>C , CM000663.2:g.196747299T>C	GRCh38
NC_000001.10:g.196716429T>C , CM000663.1:g.196716429T>C	GRCh37
NC_000001.9:g.194983052T>C	NCBI36
NG_007259.1:g.100289T>C , LRG_47:g.100289T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4710T>C
ENST00000695970.1:c.3508T>C	ENSP00000512297.1:p.Cys1170Arg
ENST00000695971.1:c.3661T>C	ENSP00000512298.1:p.Cys1221Arg
ENST00000695972.1:c.*759T>C	ENSP00000512299.1:n.*759T>C
ENST00000695973.1:c.*2046T>C	ENSP00000512300.1:n.*2046T>C
ENST00000695974.1:c.3505T>C	ENSP00000512301.1:p.Cys1169Arg
ENST00000695975.1:c.*1809T>C	ENSP00000512302.1:n.*1809T>C
ENST00000695976.1:c.3493T>C	ENSP00000512303.1:p.Cys1165Arg
ENST00000695981.1:c.3580+102T>C	ENSP00000512306.1:n.3580+102T>C
ENST00000695984.1:c.1690T>C	ENSP00000512309.1:p.Cys564Arg
ENST00000695986.1:c.*3333T>C	ENSP00000512311.1:n.*3333T>C
ENST00000695990.1:n.716T>C
ENST00000696026.1:c.*1964T>C	ENSP00000512335.1:n.*1964T>C
ENST00000696027.1:c.3676T>C	ENSP00000512336.1:p.Cys1226Arg
ENST00000696028.1:c.3610T>C	ENSP00000512337.1:p.Cys1204Arg
ENST00000696029.1:c.3676T>C	ENSP00000512338.1:p.Cys1226Arg
ENST00000696031.1:c.*3200T>C	ENSP00000512340.1:n.*3200T>C
ENST00000696032.1:c.3580+102T>C	ENSP00000512341.1:n.3580+102T>C
ENST00000696033.1:c.1160-32498T>C	ENSP00000512342.1:n.1160-32498T>C
ENST00000367429.9:c.3682T>C MANE Select	ENSP00000356399.4:p.Cys1228Arg
ENST00000367429.8:c.3682T>C	ENSP00000356399.4:p.Cys1228Arg
ENST00000466229.5:n.6780T>C
NM_000186.3:c.3682T>C , LRG_47t1:c.3682T>C	NP_000177.2:p.Cys1228Arg
XR_001737134.2:n.3868T>C
NM_000186.4:c.3682T>C MANE Select	NP_000177.2:p.Cys1228Arg