Canonical Allele Identifier: CA1305828

Gene: CFH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196742055C>G , CM000663.2:g.196742055C>G	GRCh38
NC_000001.10:g.196711185C>G , CM000663.1:g.196711185C>G	GRCh37
NC_000001.9:g.194977808C>G	NCBI36
NG_007259.1:g.95045C>G , LRG_47:g.95045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4161+4C>G
ENST00000695970.1:c.2959+4C>G	ENSP00000512297.1:n.2959+4C>G
ENST00000695971.1:c.3112+4C>G	ENSP00000512298.1:n.3112+4C>G
ENST00000695972.1:c.*210+4C>G	ENSP00000512299.1:n.*210+4C>G
ENST00000695973.1:c.*1497+4C>G	ENSP00000512300.1:n.*1497+4C>G
ENST00000695974.1:c.2956+4C>G	ENSP00000512301.1:n.2956+4C>G
ENST00000695975.1:c.*1260+4C>G	ENSP00000512302.1:n.*1260+4C>G
ENST00000695976.1:c.2944+4C>G	ENSP00000512303.1:n.2944+4C>G
ENST00000695981.1:c.3133+4C>G	ENSP00000512306.1:n.3133+4C>G
ENST00000695984.1:c.1141+4C>G	ENSP00000512309.1:n.1141+4C>G
ENST00000695986.1:c.*2784+4C>G	ENSP00000512311.1:n.*2784+4C>G
ENST00000696026.1:c.*1415+4C>G	ENSP00000512335.1:n.*1415+4C>G
ENST00000696027.1:c.3127+4C>G	ENSP00000512336.1:n.3127+4C>G
ENST00000696028.1:c.3061+4C>G	ENSP00000512337.1:n.3061+4C>G
ENST00000696029.1:c.3127+4C>G	ENSP00000512338.1:n.3127+4C>G
ENST00000696031.1:c.*2651+4C>G	ENSP00000512340.1:n.*2651+4C>G
ENST00000696032.1:c.3133+4C>G	ENSP00000512341.1:n.3133+4C>G
ENST00000696033.1:c.1160-37742C>G	ENSP00000512342.1:n.1160-37742C>G
ENST00000367429.9:c.3133+4C>G MANE Select	ENSP00000356399.4:n.3133+4C>G
ENST00000367429.8:c.3133+4C>G	ENSP00000356399.4:n.3133+4C>G
ENST00000466229.5:n.6231+4C>G
NM_000186.3:c.3133+4C>G , LRG_47t1:c.3133+4C>G	NP_000177.2:n.3133+4C>G
XR_001737134.2:n.3319+4C>G
NM_000186.4:c.3133+4C>G MANE Select	NP_000177.2:n.3133+4C>G