Canonical Allele Identifier: CA10588915

Gene: CFH

Linked Data

• ClinVar Variation Id: 265982
• ClinVar RCV Id: RCV000256395
• dbSNP Id: rs886039869
• gnomAD v4: 1-196740786-T-C
• MyVariant Identifiers: chr1:g.196709916T>C (hg19) ; chr1:g.196740786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740786T>C , CM000663.2:g.196740786T>C	GRCh38
NC_000001.10:g.196709916T>C , CM000663.1:g.196709916T>C	GRCh37
NC_000001.9:g.194976539T>C	NCBI36
NG_007259.1:g.93776T>C , LRG_47:g.93776T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.3216T>C
ENST00000695970.1:c.2783-1089T>C	ENSP00000512297.1:n.2783-1089T>C
ENST00000695971.1:c.2929T>C	ENSP00000512298.1:p.Cys977Arg
ENST00000695972.1:c.*27T>C	ENSP00000512299.1:n.*27T>C
ENST00000695973.1:c.*1314T>C	ENSP00000512300.1:n.*1314T>C
ENST00000695974.1:c.2773T>C	ENSP00000512301.1:p.Cys925Arg
ENST00000695975.1:c.*1077T>C	ENSP00000512302.1:n.*1077T>C
ENST00000695976.1:c.2761T>C	ENSP00000512303.1:p.Cys921Arg
ENST00000695981.1:c.2950T>C	ENSP00000512306.1:p.Cys984Arg
ENST00000695983.1:c.2862+88T>C	ENSP00000512308.1:n.2862+88T>C
ENST00000695984.1:c.958T>C	ENSP00000512309.1:p.Cys320Arg
ENST00000695986.1:c.*2601T>C	ENSP00000512311.1:n.*2601T>C
ENST00000696025.1:n.3034T>C
ENST00000696026.1:c.*1232T>C	ENSP00000512335.1:n.*1232T>C
ENST00000696027.1:c.2944T>C	ENSP00000512336.1:p.Cys982Arg
ENST00000696028.1:c.2884+66T>C	ENSP00000512337.1:n.2884+66T>C
ENST00000696029.1:c.2950T>C	ENSP00000512338.1:p.Cys984Arg
ENST00000696031.1:c.*2468T>C	ENSP00000512340.1:n.*2468T>C
ENST00000696032.1:c.2950T>C	ENSP00000512341.1:p.Cys984Arg
ENST00000696033.1:c.1160-39011T>C	ENSP00000512342.1:n.1160-39011T>C
ENST00000367429.9:c.2950T>C MANE Select	ENSP00000356399.4:p.Cys984Arg
ENST00000367429.8:c.2950T>C	ENSP00000356399.4:p.Cys984Arg
ENST00000466229.5:n.4966T>C
ENST00000470918.1:n.453T>C
NM_000186.3:c.2950T>C , LRG_47t1:c.2950T>C	NP_000177.2:p.Cys984Arg
XR_001737134.2:n.3136T>C
NM_000186.4:c.2950T>C MANE Select	NP_000177.2:p.Cys984Arg