Canonical Allele Identifier: CA343988021

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716355G>C (hg19) ; chr1:g.196747225G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747225G>C , CM000663.2:g.196747225G>C	GRCh38
NC_000001.10:g.196716355G>C , CM000663.1:g.196716355G>C	GRCh37
NC_000001.9:g.194982978G>C	NCBI36
NG_007259.1:g.100215G>C , LRG_47:g.100215G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4636G>C
ENST00000695970.1:c.3434G>C	ENSP00000512297.1:p.Arg1145Pro
ENST00000695971.1:c.3587G>C	ENSP00000512298.1:p.Arg1196Pro
ENST00000695972.1:c.*685G>C	ENSP00000512299.1:n.*685G>C
ENST00000695973.1:c.*1972G>C	ENSP00000512300.1:n.*1972G>C
ENST00000695974.1:c.3431G>C	ENSP00000512301.1:p.Arg1144Pro
ENST00000695975.1:c.*1735G>C	ENSP00000512302.1:n.*1735G>C
ENST00000695976.1:c.3419G>C	ENSP00000512303.1:p.Arg1140Pro
ENST00000695981.1:c.3580+28G>C	ENSP00000512306.1:n.3580+28G>C
ENST00000695984.1:c.1616G>C	ENSP00000512309.1:p.Arg539Pro
ENST00000695986.1:c.*3259G>C	ENSP00000512311.1:n.*3259G>C
ENST00000695990.1:n.642G>C
ENST00000696026.1:c.*1890G>C	ENSP00000512335.1:n.*1890G>C
ENST00000696027.1:c.3602G>C	ENSP00000512336.1:p.Arg1201Pro
ENST00000696028.1:c.3536G>C	ENSP00000512337.1:p.Arg1179Pro
ENST00000696029.1:c.3602G>C	ENSP00000512338.1:p.Arg1201Pro
ENST00000696031.1:c.*3126G>C	ENSP00000512340.1:n.*3126G>C
ENST00000696032.1:c.3580+28G>C	ENSP00000512341.1:n.3580+28G>C
ENST00000696033.1:c.1160-32572G>C	ENSP00000512342.1:n.1160-32572G>C
ENST00000367429.9:c.3608G>C MANE Select	ENSP00000356399.4:p.Arg1203Pro
ENST00000367429.8:c.3608G>C	ENSP00000356399.4:p.Arg1203Pro
ENST00000466229.5:n.6706G>C
NM_000186.3:c.3608G>C , LRG_47t1:c.3608G>C	NP_000177.2:p.Arg1203Pro
XR_001737134.2:n.3794G>C
NM_000186.4:c.3608G>C MANE Select	NP_000177.2:p.Arg1203Pro