Canonical Allele Identifier: CA422663612

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716377T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747247T>C , CM000663.2:g.196747247T>C	GRCh38
NC_000001.10:g.196716377T>C , CM000663.1:g.196716377T>C	GRCh37
NC_000001.9:g.194983000T>C	NCBI36
NG_007259.1:g.100237T>C , LRG_47:g.100237T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4658T>C
ENST00000695970.1:c.3456T>C	ENSP00000512297.1:p.Arg1152=
ENST00000695971.1:c.3609T>C	ENSP00000512298.1:p.Arg1203=
ENST00000695972.1:c.*707T>C	ENSP00000512299.1:n.*707T>C
ENST00000695973.1:c.*1994T>C	ENSP00000512300.1:n.*1994T>C
ENST00000695974.1:c.3453T>C	ENSP00000512301.1:p.Arg1151=
ENST00000695975.1:c.*1757T>C	ENSP00000512302.1:n.*1757T>C
ENST00000695976.1:c.3441T>C	ENSP00000512303.1:p.Arg1147=
ENST00000695981.1:c.3580+50T>C	ENSP00000512306.1:n.3580+50T>C
ENST00000695984.1:c.1638T>C	ENSP00000512309.1:p.Arg546=
ENST00000695986.1:c.*3281T>C	ENSP00000512311.1:n.*3281T>C
ENST00000695990.1:n.664T>C
ENST00000696026.1:c.*1912T>C	ENSP00000512335.1:n.*1912T>C
ENST00000696027.1:c.3624T>C	ENSP00000512336.1:p.Arg1208=
ENST00000696028.1:c.3558T>C	ENSP00000512337.1:p.Arg1186=
ENST00000696029.1:c.3624T>C	ENSP00000512338.1:p.Arg1208=
ENST00000696031.1:c.*3148T>C	ENSP00000512340.1:n.*3148T>C
ENST00000696032.1:c.3580+50T>C	ENSP00000512341.1:n.3580+50T>C
ENST00000696033.1:c.1160-32550T>C	ENSP00000512342.1:n.1160-32550T>C
ENST00000367429.9:c.3630T>C MANE Select	ENSP00000356399.4:p.Arg1210=
ENST00000367429.8:c.3630T>C	ENSP00000356399.4:p.Arg1210=
ENST00000466229.5:n.6728T>C
NM_000186.3:c.3630T>C , LRG_47t1:c.3630T>C	NP_000177.2:p.Arg1210=
XR_001737134.2:n.3816T>C
NM_000186.4:c.3630T>C MANE Select	NP_000177.2:p.Arg1210=