Canonical Allele Identifier: CA2649647294

Gene: CFH

Linked Data

• gnomAD v4: 1-196747382-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747382A>G , CM000663.2:g.196747382A>G	GRCh38
NC_000001.10:g.196716512A>G , CM000663.1:g.196716512A>G	GRCh37
NC_000001.9:g.194983135A>G	NCBI36
NG_007259.1:g.100372A>G , LRG_47:g.100372A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4793A>G
ENST00000695970.1:c.*69A>G	ENSP00000512297.1:n.*69A>G
ENST00000695971.1:c.*69A>G	ENSP00000512298.1:n.*69A>G
ENST00000695972.1:c.*842A>G	ENSP00000512299.1:n.*842A>G
ENST00000695973.1:c.*2129A>G	ENSP00000512300.1:n.*2129A>G
ENST00000695974.1:c.*69A>G	ENSP00000512301.1:n.*69A>G
ENST00000695975.1:c.*1892A>G	ENSP00000512302.1:n.*1892A>G
ENST00000695976.1:c.*69A>G	ENSP00000512303.1:n.*69A>G
ENST00000695981.1:c.3580+185A>G	ENSP00000512306.1:n.3580+185A>G
ENST00000695984.1:c.*69A>G	ENSP00000512309.1:n.*69A>G
ENST00000695986.1:c.*3416A>G	ENSP00000512311.1:n.*3416A>G
ENST00000695990.1:n.799A>G
ENST00000696026.1:c.*2047A>G	ENSP00000512335.1:n.*2047A>G
ENST00000696027.1:c.*69A>G	ENSP00000512336.1:n.*69A>G
ENST00000696028.1:c.*69A>G	ENSP00000512337.1:n.*69A>G
ENST00000696029.1:c.*69A>G	ENSP00000512338.1:n.*69A>G
ENST00000696031.1:c.*3283A>G	ENSP00000512340.1:n.*3283A>G
ENST00000696032.1:c.3580+185A>G	ENSP00000512341.1:n.3580+185A>G
ENST00000696033.1:c.1160-32415A>G	ENSP00000512342.1:n.1160-32415A>G
ENST00000367429.9:c.*69A>G MANE Select	ENSP00000356399.4:n.*69A>G
ENST00000367429.8:c.*69A>G	ENSP00000356399.4:n.*69A>G
ENST00000466229.5:n.6863A>G
NM_000186.3:c.*69A>G , LRG_47t1:c.*69A>G	NP_000177.2:n.*69A>G
XR_001737134.2:n.3951A>G
NM_000186.4:c.*69A>G MANE Select	NP_000177.2:n.*69A>G