Canonical Allele Identifier: CA2649647343

Gene: CFH

Linked Data

• gnomAD v4: 1-196747449-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747449A>C , CM000663.2:g.196747449A>C	GRCh38
NC_000001.10:g.196716579A>C , CM000663.1:g.196716579A>C	GRCh37
NC_000001.9:g.194983202A>C	NCBI36
NG_007259.1:g.100439A>C , LRG_47:g.100439A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4860A>C
ENST00000695970.1:c.*136A>C	ENSP00000512297.1:n.*136A>C
ENST00000695971.1:c.*136A>C	ENSP00000512298.1:n.*136A>C
ENST00000695972.1:c.*909A>C	ENSP00000512299.1:n.*909A>C
ENST00000695973.1:c.*2196A>C	ENSP00000512300.1:n.*2196A>C
ENST00000695974.1:c.*136A>C	ENSP00000512301.1:n.*136A>C
ENST00000695975.1:c.*1959A>C	ENSP00000512302.1:n.*1959A>C
ENST00000695976.1:c.*136A>C	ENSP00000512303.1:n.*136A>C
ENST00000695981.1:c.3580+252A>C	ENSP00000512306.1:n.3580+252A>C
ENST00000695984.1:c.*136A>C	ENSP00000512309.1:n.*136A>C
ENST00000695986.1:c.*3483A>C	ENSP00000512311.1:n.*3483A>C
ENST00000695990.1:n.866A>C
ENST00000696026.1:c.*2114A>C	ENSP00000512335.1:n.*2114A>C
ENST00000696027.1:c.*136A>C	ENSP00000512336.1:n.*136A>C
ENST00000696028.1:c.*136A>C	ENSP00000512337.1:n.*136A>C
ENST00000696029.1:c.*136A>C	ENSP00000512338.1:n.*136A>C
ENST00000696031.1:c.*3350A>C	ENSP00000512340.1:n.*3350A>C
ENST00000696032.1:c.3580+252A>C	ENSP00000512341.1:n.3580+252A>C
ENST00000696033.1:c.1160-32348A>C	ENSP00000512342.1:n.1160-32348A>C
ENST00000367429.9:c.*136A>C MANE Select	ENSP00000356399.4:n.*136A>C
ENST00000367429.8:c.*136A>C	ENSP00000356399.4:n.*136A>C
ENST00000466229.5:n.6930A>C
NM_000186.3:c.*136A>C , LRG_47t1:c.*136A>C	NP_000177.2:n.*136A>C
XR_001737134.2:n.4018A>C
NM_000186.4:c.*136A>C MANE Select	NP_000177.2:n.*136A>C