Canonical Allele Identifier: CA1217770707

Gene: CFH

Linked Data

• dbSNP Id: rs1653034184
• gnomAD v4: 1-196747043-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747043A>G , CM000663.2:g.196747043A>G	GRCh38
NC_000001.10:g.196716173A>G , CM000663.1:g.196716173A>G	GRCh37
NC_000001.9:g.194982796A>G	NCBI36
NG_007259.1:g.100033A>G , LRG_47:g.100033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4522-68A>G
ENST00000695970.1:c.3320-68A>G	ENSP00000512297.1:n.3320-68A>G
ENST00000695971.1:c.3473-68A>G	ENSP00000512298.1:n.3473-68A>G
ENST00000695972.1:c.*571-68A>G	ENSP00000512299.1:n.*571-68A>G
ENST00000695973.1:c.*1858-68A>G	ENSP00000512300.1:n.*1858-68A>G
ENST00000695974.1:c.3317-68A>G	ENSP00000512301.1:n.3317-68A>G
ENST00000695975.1:c.*1621-68A>G	ENSP00000512302.1:n.*1621-68A>G
ENST00000695976.1:c.3305-68A>G	ENSP00000512303.1:n.3305-68A>G
ENST00000695981.1:c.3494-68A>G	ENSP00000512306.1:n.3494-68A>G
ENST00000695984.1:c.1502-68A>G	ENSP00000512309.1:n.1502-68A>G
ENST00000695986.1:c.*3145-68A>G	ENSP00000512311.1:n.*3145-68A>G
ENST00000695990.1:n.528-68A>G
ENST00000696026.1:c.*1776-68A>G	ENSP00000512335.1:n.*1776-68A>G
ENST00000696027.1:c.3488-68A>G	ENSP00000512336.1:n.3488-68A>G
ENST00000696028.1:c.3422-68A>G	ENSP00000512337.1:n.3422-68A>G
ENST00000696029.1:c.3488-68A>G	ENSP00000512338.1:n.3488-68A>G
ENST00000696031.1:c.*3012-68A>G	ENSP00000512340.1:n.*3012-68A>G
ENST00000696032.1:c.3494-68A>G	ENSP00000512341.1:n.3494-68A>G
ENST00000696033.1:c.1160-32754A>G	ENSP00000512342.1:n.1160-32754A>G
ENST00000367429.9:c.3494-68A>G MANE Select	ENSP00000356399.4:n.3494-68A>G
ENST00000367429.8:c.3494-68A>G	ENSP00000356399.4:n.3494-68A>G
ENST00000466229.5:n.6592-68A>G
NM_000186.3:c.3494-68A>G , LRG_47t1:c.3494-68A>G	NP_000177.2:n.3494-68A>G
XR_001737134.2:n.3680-68A>G
NM_000186.4:c.3494-68A>G MANE Select	NP_000177.2:n.3494-68A>G