Canonical Allele Identifier: CA343989411

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716424C>G (hg19) ; chr1:g.196747294C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747294C>G , CM000663.2:g.196747294C>G	GRCh38
NC_000001.10:g.196716424C>G , CM000663.1:g.196716424C>G	GRCh37
NC_000001.9:g.194983047C>G	NCBI36
NG_007259.1:g.100284C>G , LRG_47:g.100284C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4705C>G
ENST00000695970.1:c.3503C>G	ENSP00000512297.1:p.Pro1168Arg
ENST00000695971.1:c.3656C>G	ENSP00000512298.1:p.Pro1219Arg
ENST00000695972.1:c.*754C>G	ENSP00000512299.1:n.*754C>G
ENST00000695973.1:c.*2041C>G	ENSP00000512300.1:n.*2041C>G
ENST00000695974.1:c.3500C>G	ENSP00000512301.1:p.Pro1167Arg
ENST00000695975.1:c.*1804C>G	ENSP00000512302.1:n.*1804C>G
ENST00000695976.1:c.3488C>G	ENSP00000512303.1:p.Pro1163Arg
ENST00000695981.1:c.3580+97C>G	ENSP00000512306.1:n.3580+97C>G
ENST00000695984.1:c.1685C>G	ENSP00000512309.1:p.Pro562Arg
ENST00000695986.1:c.*3328C>G	ENSP00000512311.1:n.*3328C>G
ENST00000695990.1:n.711C>G
ENST00000696026.1:c.*1959C>G	ENSP00000512335.1:n.*1959C>G
ENST00000696027.1:c.3671C>G	ENSP00000512336.1:p.Pro1224Arg
ENST00000696028.1:c.3605C>G	ENSP00000512337.1:p.Pro1202Arg
ENST00000696029.1:c.3671C>G	ENSP00000512338.1:p.Pro1224Arg
ENST00000696031.1:c.*3195C>G	ENSP00000512340.1:n.*3195C>G
ENST00000696032.1:c.3580+97C>G	ENSP00000512341.1:n.3580+97C>G
ENST00000696033.1:c.1160-32503C>G	ENSP00000512342.1:n.1160-32503C>G
ENST00000367429.9:c.3677C>G MANE Select	ENSP00000356399.4:p.Pro1226Arg
ENST00000367429.8:c.3677C>G	ENSP00000356399.4:p.Pro1226Arg
ENST00000466229.5:n.6775C>G
NM_000186.3:c.3677C>G , LRG_47t1:c.3677C>G	NP_000177.2:p.Pro1226Arg
XR_001737134.2:n.3863C>G
NM_000186.4:c.3677C>G MANE Select	NP_000177.2:p.Pro1226Arg