Canonical Allele Identifier: CA422663631

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716392A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747262A>C , CM000663.2:g.196747262A>C	GRCh38
NC_000001.10:g.196716392A>C , CM000663.1:g.196716392A>C	GRCh37
NC_000001.9:g.194983015A>C	NCBI36
NG_007259.1:g.100252A>C , LRG_47:g.100252A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4673A>C
ENST00000695970.1:c.3471A>C	ENSP00000512297.1:p.Arg1157=
ENST00000695971.1:c.3624A>C	ENSP00000512298.1:p.Arg1208=
ENST00000695972.1:c.*722A>C	ENSP00000512299.1:n.*722A>C
ENST00000695973.1:c.*2009A>C	ENSP00000512300.1:n.*2009A>C
ENST00000695974.1:c.3468A>C	ENSP00000512301.1:p.Arg1156=
ENST00000695975.1:c.*1772A>C	ENSP00000512302.1:n.*1772A>C
ENST00000695976.1:c.3456A>C	ENSP00000512303.1:p.Arg1152=
ENST00000695981.1:c.3580+65A>C	ENSP00000512306.1:n.3580+65A>C
ENST00000695984.1:c.1653A>C	ENSP00000512309.1:p.Arg551=
ENST00000695986.1:c.*3296A>C	ENSP00000512311.1:n.*3296A>C
ENST00000695990.1:n.679A>C
ENST00000696026.1:c.*1927A>C	ENSP00000512335.1:n.*1927A>C
ENST00000696027.1:c.3639A>C	ENSP00000512336.1:p.Arg1213=
ENST00000696028.1:c.3573A>C	ENSP00000512337.1:p.Arg1191=
ENST00000696029.1:c.3639A>C	ENSP00000512338.1:p.Arg1213=
ENST00000696031.1:c.*3163A>C	ENSP00000512340.1:n.*3163A>C
ENST00000696032.1:c.3580+65A>C	ENSP00000512341.1:n.3580+65A>C
ENST00000696033.1:c.1160-32535A>C	ENSP00000512342.1:n.1160-32535A>C
ENST00000367429.9:c.3645A>C MANE Select	ENSP00000356399.4:p.Arg1215=
ENST00000367429.8:c.3645A>C	ENSP00000356399.4:p.Arg1215=
ENST00000466229.5:n.6743A>C
NM_000186.3:c.3645A>C , LRG_47t1:c.3645A>C	NP_000177.2:p.Arg1215=
XR_001737134.2:n.3831A>C
NM_000186.4:c.3645A>C MANE Select	NP_000177.2:p.Arg1215=