Canonical Allele Identifier: CA1305861

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743474C>T , CM000663.2:g.196743474C>T	GRCh38
NC_000001.10:g.196712604C>T , CM000663.1:g.196712604C>T	GRCh37
NC_000001.9:g.194979227C>T	NCBI36
NG_007259.1:g.96464C>T , LRG_47:g.96464C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000186.4:c.3156C>T MANE Select	NP_000177.2:p.Pro1052=
ENST00000367429.9:c.3156C>T MANE Select	ENSP00000356399.4:p.Pro1052=
NM_000186.3:c.3156C>T , LRG_47t1:c.3156C>T	NP_000177.2:p.Pro1052=
ENST00000367429.8:c.3156C>T	ENSP00000356399.4:p.Pro1052=
ENST00000466229.5:n.6254C>T
ENST00000470918.2:n.4184C>T
ENST00000695970.1:c.2982C>T	ENSP00000512297.1:p.Pro994=
ENST00000695971.1:c.3135C>T	ENSP00000512298.1:p.Pro1045=
ENST00000695972.1:c.*233C>T	ENSP00000512299.1:n.*233C>T
ENST00000695973.1:c.*1520C>T	ENSP00000512300.1:n.*1520C>T
ENST00000695974.1:c.2979C>T	ENSP00000512301.1:p.Pro993=
ENST00000695975.1:c.*1283C>T	ENSP00000512302.1:n.*1283C>T
ENST00000695976.1:c.2967C>T	ENSP00000512303.1:p.Pro989=
ENST00000695981.1:c.3156C>T	ENSP00000512306.1:p.Pro1052=
ENST00000695984.1:c.1164C>T	ENSP00000512309.1:p.Pro388=
ENST00000695986.1:c.*2807C>T	ENSP00000512311.1:n.*2807C>T
ENST00000696026.1:c.*1438C>T	ENSP00000512335.1:n.*1438C>T
ENST00000696027.1:c.3150C>T	ENSP00000512336.1:p.Pro1050=
ENST00000696028.1:c.3084C>T	ENSP00000512337.1:p.Pro1028=
ENST00000696029.1:c.3150C>T	ENSP00000512338.1:p.Pro1050=
ENST00000696031.1:c.*2674C>T	ENSP00000512340.1:n.*2674C>T
ENST00000696032.1:c.3156C>T	ENSP00000512341.1:p.Pro1052=
ENST00000696033.1:c.1160-36323C>T	ENSP00000512342.1:n.1160-36323C>T
XR_001737134.2:n.3342C>T