Canonical Allele Identifier: CA343984113

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712751A>C (hg19) ; chr1:g.196743621A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743621A>C , CM000663.2:g.196743621A>C	GRCh38
NC_000001.10:g.196712751A>C , CM000663.1:g.196712751A>C	GRCh37
NC_000001.9:g.194979374A>C	NCBI36
NG_007259.1:g.96611A>C , LRG_47:g.96611A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4331A>C
ENST00000695970.1:c.3129A>C	ENSP00000512297.1:p.Gln1043His
ENST00000695971.1:c.3282A>C	ENSP00000512298.1:p.Gln1094His
ENST00000695972.1:c.*380A>C	ENSP00000512299.1:n.*380A>C
ENST00000695973.1:c.*1667A>C	ENSP00000512300.1:n.*1667A>C
ENST00000695974.1:c.3126A>C	ENSP00000512301.1:p.Gln1042His
ENST00000695975.1:c.*1430A>C	ENSP00000512302.1:n.*1430A>C
ENST00000695976.1:c.3114A>C	ENSP00000512303.1:p.Gln1038His
ENST00000695981.1:c.3303A>C	ENSP00000512306.1:p.Gln1101His
ENST00000695984.1:c.1311A>C	ENSP00000512309.1:p.Gln437His
ENST00000695986.1:c.*2954A>C	ENSP00000512311.1:n.*2954A>C
ENST00000696026.1:c.*1585A>C	ENSP00000512335.1:n.*1585A>C
ENST00000696027.1:c.3297A>C	ENSP00000512336.1:p.Gln1099His
ENST00000696028.1:c.3231A>C	ENSP00000512337.1:p.Gln1077His
ENST00000696029.1:c.3297A>C	ENSP00000512338.1:p.Gln1099His
ENST00000696031.1:c.*2821A>C	ENSP00000512340.1:n.*2821A>C
ENST00000696032.1:c.3303A>C	ENSP00000512341.1:p.Gln1101His
ENST00000696033.1:c.1160-36176A>C	ENSP00000512342.1:n.1160-36176A>C
ENST00000367429.9:c.3303A>C MANE Select	ENSP00000356399.4:p.Gln1101His
ENST00000367429.8:c.3303A>C	ENSP00000356399.4:p.Gln1101His
ENST00000466229.5:n.6401A>C
NM_000186.3:c.3303A>C , LRG_47t1:c.3303A>C	NP_000177.2:p.Gln1101His
XR_001737134.2:n.3489A>C
NM_000186.4:c.3303A>C MANE Select	NP_000177.2:p.Gln1101His