Canonical Allele Identifier: CA2649647301

Gene: CFH

Linked Data

• gnomAD v4: 1-196747386-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747387_196747388del , CM000663.2:g.196747387_196747388del	GRCh38
NC_000001.10:g.196716517_196716518del , CM000663.1:g.196716517_196716518del	GRCh37
NC_000001.9:g.194983140_194983141del	NCBI36
NG_007259.1:g.100377_100378del , LRG_47:g.100377_100378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4798_4799del
ENST00000695970.1:c.*74_*75del	ENSP00000512297.1:n.*74_*75del
ENST00000695971.1:c.*74_*75del	ENSP00000512298.1:n.*74_*75del
ENST00000695972.1:c.*847_*848del	ENSP00000512299.1:n.*847_*848del
ENST00000695973.1:c.*2134_*2135del	ENSP00000512300.1:n.*2134_*2135del
ENST00000695974.1:c.*74_*75del	ENSP00000512301.1:n.*74_*75del
ENST00000695975.1:c.*1897_*1898del	ENSP00000512302.1:n.*1897_*1898del
ENST00000695976.1:c.*74_*75del	ENSP00000512303.1:n.*74_*75del
ENST00000695981.1:c.3580+190_3580+191del	ENSP00000512306.1:n.3580+190_3580+191del
ENST00000695984.1:c.*74_*75del	ENSP00000512309.1:n.*74_*75del
ENST00000695986.1:c.*3421_*3422del	ENSP00000512311.1:n.*3421_*3422del
ENST00000695990.1:n.804_805del
ENST00000696026.1:c.*2052_*2053del	ENSP00000512335.1:n.*2052_*2053del
ENST00000696027.1:c.*74_*75del	ENSP00000512336.1:n.*74_*75del
ENST00000696028.1:c.*74_*75del	ENSP00000512337.1:n.*74_*75del
ENST00000696029.1:c.*74_*75del	ENSP00000512338.1:n.*74_*75del
ENST00000696031.1:c.*3288_*3289del	ENSP00000512340.1:n.*3288_*3289del
ENST00000696032.1:c.3580+190_3580+191del	ENSP00000512341.1:n.3580+190_3580+191del
ENST00000696033.1:c.1160-32410_1160-32409del	ENSP00000512342.1:n.1160-32410_1160-32409del
ENST00000367429.9:c.*74_*75del MANE Select	ENSP00000356399.4:n.*74_*75del
ENST00000367429.8:c.*74_*75del	ENSP00000356399.4:n.*74_*75del
ENST00000466229.5:n.6868_6869del
NM_000186.3:c.*74_*75del , LRG_47t1:c.*74_*75del	NP_000177.2:n.*74_*75del
XR_001737134.2:n.3956_3957del
NM_000186.4:c.*74_*75del MANE Select	NP_000177.2:n.*74_*75del