Canonical Allele Identifier: CA343989408

Gene: CFH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4705C>A
ENST00000695970.1:c.3503C>A	ENSP00000512297.1:p.Pro1168Gln
ENST00000695971.1:c.3656C>A	ENSP00000512298.1:p.Pro1219Gln
ENST00000695972.1:c.*754C>A	ENSP00000512299.1:n.*754C>A
ENST00000695973.1:c.*2041C>A	ENSP00000512300.1:n.*2041C>A
ENST00000695974.1:c.3500C>A	ENSP00000512301.1:p.Pro1167Gln
ENST00000695975.1:c.*1804C>A	ENSP00000512302.1:n.*1804C>A
ENST00000695976.1:c.3488C>A	ENSP00000512303.1:p.Pro1163Gln
ENST00000695981.1:c.3580+97C>A	ENSP00000512306.1:n.3580+97C>A
ENST00000695984.1:c.1685C>A	ENSP00000512309.1:p.Pro562Gln
ENST00000695986.1:c.*3328C>A	ENSP00000512311.1:n.*3328C>A
ENST00000695990.1:n.711C>A
ENST00000696026.1:c.*1959C>A	ENSP00000512335.1:n.*1959C>A
ENST00000696027.1:c.3671C>A	ENSP00000512336.1:p.Pro1224Gln
ENST00000696028.1:c.3605C>A	ENSP00000512337.1:p.Pro1202Gln
ENST00000696029.1:c.3671C>A	ENSP00000512338.1:p.Pro1224Gln
ENST00000696031.1:c.*3195C>A	ENSP00000512340.1:n.*3195C>A
ENST00000696032.1:c.3580+97C>A	ENSP00000512341.1:n.3580+97C>A
ENST00000696033.1:c.1160-32503C>A	ENSP00000512342.1:n.1160-32503C>A
ENST00000367429.9:c.3677C>A MANE Select	ENSP00000356399.4:p.Pro1226Gln
ENST00000367429.8:c.3677C>A	ENSP00000356399.4:p.Pro1226Gln
ENST00000466229.5:n.6775C>A
NM_000186.3:c.3677C>A , LRG_47t1:c.3677C>A	NP_000177.2:p.Pro1226Gln
XR_001737134.2:n.3863C>A
NM_000186.4:c.3677C>A MANE Select	NP_000177.2:p.Pro1226Gln