Canonical Allele Identifier: CA422663555

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716335A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747205A>C , CM000663.2:g.196747205A>C	GRCh38
NC_000001.10:g.196716335A>C , CM000663.1:g.196716335A>C	GRCh37
NC_000001.9:g.194982958A>C	NCBI36
NG_007259.1:g.100195A>C , LRG_47:g.100195A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4616A>C
ENST00000695970.1:c.3414A>C	ENSP00000512297.1:p.Ser1138=
ENST00000695971.1:c.3567A>C	ENSP00000512298.1:p.Ser1189=
ENST00000695972.1:c.*665A>C	ENSP00000512299.1:n.*665A>C
ENST00000695973.1:c.*1952A>C	ENSP00000512300.1:n.*1952A>C
ENST00000695974.1:c.3411A>C	ENSP00000512301.1:p.Ser1137=
ENST00000695975.1:c.*1715A>C	ENSP00000512302.1:n.*1715A>C
ENST00000695976.1:c.3399A>C	ENSP00000512303.1:p.Ser1133=
ENST00000695981.1:c.3580+8A>C	ENSP00000512306.1:n.3580+8A>C
ENST00000695984.1:c.1596A>C	ENSP00000512309.1:p.Ser532=
ENST00000695986.1:c.*3239A>C	ENSP00000512311.1:n.*3239A>C
ENST00000695990.1:n.622A>C
ENST00000696026.1:c.*1870A>C	ENSP00000512335.1:n.*1870A>C
ENST00000696027.1:c.3582A>C	ENSP00000512336.1:p.Ser1194=
ENST00000696028.1:c.3516A>C	ENSP00000512337.1:p.Ser1172=
ENST00000696029.1:c.3582A>C	ENSP00000512338.1:p.Ser1194=
ENST00000696031.1:c.*3106A>C	ENSP00000512340.1:n.*3106A>C
ENST00000696032.1:c.3580+8A>C	ENSP00000512341.1:n.3580+8A>C
ENST00000696033.1:c.1160-32592A>C	ENSP00000512342.1:n.1160-32592A>C
ENST00000367429.9:c.3588A>C MANE Select	ENSP00000356399.4:p.Ser1196=
ENST00000367429.8:c.3588A>C	ENSP00000356399.4:p.Ser1196=
ENST00000466229.5:n.6686A>C
NM_000186.3:c.3588A>C , LRG_47t1:c.3588A>C	NP_000177.2:p.Ser1196=
XR_001737134.2:n.3774A>C
NM_000186.4:c.3588A>C MANE Select	NP_000177.2:p.Ser1196=