Canonical Allele Identifier: CA422663880

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716438A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747308A>C , CM000663.2:g.196747308A>C	GRCh38
NC_000001.10:g.196716438A>C , CM000663.1:g.196716438A>C	GRCh37
NC_000001.9:g.194983061A>C	NCBI36
NG_007259.1:g.100298A>C , LRG_47:g.100298A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4719A>C
ENST00000695970.1:c.3517A>C	ENSP00000512297.1:p.Arg1173=
ENST00000695971.1:c.3670A>C	ENSP00000512298.1:p.Arg1224=
ENST00000695972.1:c.*768A>C	ENSP00000512299.1:n.*768A>C
ENST00000695973.1:c.*2055A>C	ENSP00000512300.1:n.*2055A>C
ENST00000695974.1:c.3514A>C	ENSP00000512301.1:p.Arg1172=
ENST00000695975.1:c.*1818A>C	ENSP00000512302.1:n.*1818A>C
ENST00000695976.1:c.3502A>C	ENSP00000512303.1:p.Arg1168=
ENST00000695981.1:c.3580+111A>C	ENSP00000512306.1:n.3580+111A>C
ENST00000695984.1:c.1699A>C	ENSP00000512309.1:p.Arg567=
ENST00000695986.1:c.*3342A>C	ENSP00000512311.1:n.*3342A>C
ENST00000695990.1:n.725A>C
ENST00000696026.1:c.*1973A>C	ENSP00000512335.1:n.*1973A>C
ENST00000696027.1:c.3685A>C	ENSP00000512336.1:p.Arg1229=
ENST00000696028.1:c.3619A>C	ENSP00000512337.1:p.Arg1207=
ENST00000696029.1:c.3685A>C	ENSP00000512338.1:p.Arg1229=
ENST00000696031.1:c.*3209A>C	ENSP00000512340.1:n.*3209A>C
ENST00000696032.1:c.3580+111A>C	ENSP00000512341.1:n.3580+111A>C
ENST00000696033.1:c.1160-32489A>C	ENSP00000512342.1:n.1160-32489A>C
ENST00000367429.9:c.3691A>C MANE Select	ENSP00000356399.4:p.Arg1231=
ENST00000367429.8:c.3691A>C	ENSP00000356399.4:p.Arg1231=
ENST00000466229.5:n.6789A>C
NM_000186.3:c.3691A>C , LRG_47t1:c.3691A>C	NP_000177.2:p.Arg1231=
XR_001737134.2:n.3877A>C
NM_000186.4:c.3691A>C MANE Select	NP_000177.2:p.Arg1231=