Canonical Allele Identifier: CA2573975023

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747059T>G , CM000663.2:g.196747059T>G	GRCh38
NC_000001.10:g.196716189T>G , CM000663.1:g.196716189T>G	GRCh37
NC_000001.9:g.194982812T>G	NCBI36
NG_007259.1:g.100049T>G , LRG_47:g.100049T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4522-52T>G
ENST00000695970.1:c.3320-52T>G	ENSP00000512297.1:n.3320-52T>G
ENST00000695971.1:c.3473-52T>G	ENSP00000512298.1:n.3473-52T>G
ENST00000695972.1:c.*571-52T>G	ENSP00000512299.1:n.*571-52T>G
ENST00000695973.1:c.*1858-52T>G	ENSP00000512300.1:n.*1858-52T>G
ENST00000695974.1:c.3317-52T>G	ENSP00000512301.1:n.3317-52T>G
ENST00000695975.1:c.*1621-52T>G	ENSP00000512302.1:n.*1621-52T>G
ENST00000695976.1:c.3305-52T>G	ENSP00000512303.1:n.3305-52T>G
ENST00000695981.1:c.3494-52T>G	ENSP00000512306.1:n.3494-52T>G
ENST00000695984.1:c.1502-52T>G	ENSP00000512309.1:n.1502-52T>G
ENST00000695986.1:c.*3145-52T>G	ENSP00000512311.1:n.*3145-52T>G
ENST00000695990.1:n.528-52T>G
ENST00000696026.1:c.*1776-52T>G	ENSP00000512335.1:n.*1776-52T>G
ENST00000696027.1:c.3488-52T>G	ENSP00000512336.1:n.3488-52T>G
ENST00000696028.1:c.3422-52T>G	ENSP00000512337.1:n.3422-52T>G
ENST00000696029.1:c.3488-52T>G	ENSP00000512338.1:n.3488-52T>G
ENST00000696031.1:c.*3012-52T>G	ENSP00000512340.1:n.*3012-52T>G
ENST00000696032.1:c.3494-52T>G	ENSP00000512341.1:n.3494-52T>G
ENST00000696033.1:c.1160-32738T>G	ENSP00000512342.1:n.1160-32738T>G
ENST00000367429.9:c.3494-52T>G MANE Select	ENSP00000356399.4:n.3494-52T>G
ENST00000367429.8:c.3494-52T>G	ENSP00000356399.4:n.3494-52T>G
ENST00000466229.5:n.6592-52T>G
NM_000186.3:c.3494-52T>G , LRG_47t1:c.3494-52T>G	NP_000177.2:n.3494-52T>G
XR_001737134.2:n.3680-52T>G
NM_000186.4:c.3494-52T>G MANE Select	NP_000177.2:n.3494-52T>G