Canonical Allele Identifier: CA343988132

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716376G>C (hg19) ; chr1:g.196747246G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747246G>C , CM000663.2:g.196747246G>C	GRCh38
NC_000001.10:g.196716376G>C , CM000663.1:g.196716376G>C	GRCh37
NC_000001.9:g.194982999G>C	NCBI36
NG_007259.1:g.100236G>C , LRG_47:g.100236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4657G>C
ENST00000695970.1:c.3455G>C	ENSP00000512297.1:p.Arg1152Pro
ENST00000695971.1:c.3608G>C	ENSP00000512298.1:p.Arg1203Pro
ENST00000695972.1:c.*706G>C	ENSP00000512299.1:n.*706G>C
ENST00000695973.1:c.*1993G>C	ENSP00000512300.1:n.*1993G>C
ENST00000695974.1:c.3452G>C	ENSP00000512301.1:p.Arg1151Pro
ENST00000695975.1:c.*1756G>C	ENSP00000512302.1:n.*1756G>C
ENST00000695976.1:c.3440G>C	ENSP00000512303.1:p.Arg1147Pro
ENST00000695981.1:c.3580+49G>C	ENSP00000512306.1:n.3580+49G>C
ENST00000695984.1:c.1637G>C	ENSP00000512309.1:p.Arg546Pro
ENST00000695986.1:c.*3280G>C	ENSP00000512311.1:n.*3280G>C
ENST00000695990.1:n.663G>C
ENST00000696026.1:c.*1911G>C	ENSP00000512335.1:n.*1911G>C
ENST00000696027.1:c.3623G>C	ENSP00000512336.1:p.Arg1208Pro
ENST00000696028.1:c.3557G>C	ENSP00000512337.1:p.Arg1186Pro
ENST00000696029.1:c.3623G>C	ENSP00000512338.1:p.Arg1208Pro
ENST00000696031.1:c.*3147G>C	ENSP00000512340.1:n.*3147G>C
ENST00000696032.1:c.3580+49G>C	ENSP00000512341.1:n.3580+49G>C
ENST00000696033.1:c.1160-32551G>C	ENSP00000512342.1:n.1160-32551G>C
ENST00000367429.9:c.3629G>C MANE Select	ENSP00000356399.4:p.Arg1210Pro
ENST00000367429.8:c.3629G>C	ENSP00000356399.4:p.Arg1210Pro
ENST00000466229.5:n.6727G>C
NM_000186.3:c.3629G>C , LRG_47t1:c.3629G>C	NP_000177.2:p.Arg1210Pro
XR_001737134.2:n.3815G>C
NM_000186.4:c.3629G>C MANE Select	NP_000177.2:p.Arg1210Pro