Canonical Allele Identifier: CA422663449

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716260A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747130A>T , CM000663.2:g.196747130A>T	GRCh38
NC_000001.10:g.196716260A>T , CM000663.1:g.196716260A>T	GRCh37
NC_000001.9:g.194982883A>T	NCBI36
NG_007259.1:g.100120A>T , LRG_47:g.100120A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4541A>T
ENST00000695970.1:c.3339A>T	ENSP00000512297.1:p.Arg1113=
ENST00000695971.1:c.3492A>T	ENSP00000512298.1:p.Arg1164=
ENST00000695972.1:c.*590A>T	ENSP00000512299.1:n.*590A>T
ENST00000695973.1:c.*1877A>T	ENSP00000512300.1:n.*1877A>T
ENST00000695974.1:c.3336A>T	ENSP00000512301.1:p.Arg1112=
ENST00000695975.1:c.*1640A>T	ENSP00000512302.1:n.*1640A>T
ENST00000695976.1:c.3324A>T	ENSP00000512303.1:p.Arg1108=
ENST00000695981.1:c.3513A>T	ENSP00000512306.1:p.Arg1171=
ENST00000695984.1:c.1521A>T	ENSP00000512309.1:p.Arg507=
ENST00000695986.1:c.*3164A>T	ENSP00000512311.1:n.*3164A>T
ENST00000695990.1:n.547A>T
ENST00000696026.1:c.*1795A>T	ENSP00000512335.1:n.*1795A>T
ENST00000696027.1:c.3507A>T	ENSP00000512336.1:p.Arg1169=
ENST00000696028.1:c.3441A>T	ENSP00000512337.1:p.Arg1147=
ENST00000696029.1:c.3507A>T	ENSP00000512338.1:p.Arg1169=
ENST00000696031.1:c.*3031A>T	ENSP00000512340.1:n.*3031A>T
ENST00000696032.1:c.3513A>T	ENSP00000512341.1:p.Arg1171=
ENST00000696033.1:c.1160-32667A>T	ENSP00000512342.1:n.1160-32667A>T
ENST00000367429.9:c.3513A>T MANE Select	ENSP00000356399.4:p.Arg1171=
ENST00000367429.8:c.3513A>T	ENSP00000356399.4:p.Arg1171=
ENST00000466229.5:n.6611A>T
NM_000186.3:c.3513A>T , LRG_47t1:c.3513A>T	NP_000177.2:p.Arg1171=
XR_001737134.2:n.3699A>T
NM_000186.4:c.3513A>T MANE Select	NP_000177.2:p.Arg1171=