Canonical Allele Identifier: CA1305806

Gene: CFH

Linked Data

• ClinVar Variation Id: 294513
• ClinVar RCV Id: RCV000307054 ; RCV000341877 ; RCV000347912 ; RCV000408202 ; RCV002294236 ; RCV001850510
• dbSNP Id: rs201816520
• ExAC: 1:196711052 G / C
• gnomAD v2: 1-196711052-G-C
• gnomAD v3: 1-196741922-G-C
• gnomAD v4: 1-196741922-G-C
• MyVariant Identifiers: chr1:g.196711052G>C (hg19) ; chr1:g.196741922G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196741922G>C , CM000663.2:g.196741922G>C	GRCh38
NC_000001.10:g.196711052G>C , CM000663.1:g.196711052G>C	GRCh37
NC_000001.9:g.194977675G>C	NCBI36
NG_007259.1:g.94912G>C , LRG_47:g.94912G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4032G>C
ENST00000695970.1:c.2830G>C	ENSP00000512297.1:p.Gly944Arg
ENST00000695971.1:c.2983G>C	ENSP00000512298.1:p.Gly995Arg
ENST00000695972.1:c.*81G>C	ENSP00000512299.1:n.*81G>C
ENST00000695973.1:c.*1368G>C	ENSP00000512300.1:n.*1368G>C
ENST00000695974.1:c.2827G>C	ENSP00000512301.1:p.Gly943Arg
ENST00000695975.1:c.*1131G>C	ENSP00000512302.1:n.*1131G>C
ENST00000695976.1:c.2815G>C	ENSP00000512303.1:p.Gly939Arg
ENST00000695981.1:c.3004G>C	ENSP00000512306.1:p.Gly1002Arg
ENST00000695983.1:c.2910G>C	ENSP00000512308.1:p.Trp970Cys
ENST00000695984.1:c.1012G>C	ENSP00000512309.1:p.Gly338Arg
ENST00000695986.1:c.*2655G>C	ENSP00000512311.1:n.*2655G>C
ENST00000696026.1:c.*1286G>C	ENSP00000512335.1:n.*1286G>C
ENST00000696027.1:c.2998G>C	ENSP00000512336.1:p.Gly1000Arg
ENST00000696028.1:c.2932G>C	ENSP00000512337.1:p.Gly978Arg
ENST00000696029.1:c.2998G>C	ENSP00000512338.1:p.Gly1000Arg
ENST00000696031.1:c.*2522G>C	ENSP00000512340.1:n.*2522G>C
ENST00000696032.1:c.3004G>C	ENSP00000512341.1:p.Gly1002Arg
ENST00000696033.1:c.1160-37875G>C	ENSP00000512342.1:n.1160-37875G>C
ENST00000367429.9:c.3004G>C MANE Select	ENSP00000356399.4:p.Gly1002Arg
ENST00000367429.8:c.3004G>C	ENSP00000356399.4:p.Gly1002Arg
ENST00000466229.5:n.6102G>C
NM_000186.3:c.3004G>C , LRG_47t1:c.3004G>C	NP_000177.2:p.Gly1002Arg
XR_001737134.2:n.3190G>C
NM_000186.4:c.3004G>C MANE Select	NP_000177.2:p.Gly1002Arg