Canonical Allele Identifier: CA343981289

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196709916T>A (hg19) ; chr1:g.196740786T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.3216T>A
ENST00000695970.1:c.2783-1089T>A	ENSP00000512297.1:n.2783-1089T>A
ENST00000695971.1:c.2929T>A	ENSP00000512298.1:p.Cys977Ser
ENST00000695972.1:c.*27T>A	ENSP00000512299.1:n.*27T>A
ENST00000695973.1:c.*1314T>A	ENSP00000512300.1:n.*1314T>A
ENST00000695974.1:c.2773T>A	ENSP00000512301.1:p.Cys925Ser
ENST00000695975.1:c.*1077T>A	ENSP00000512302.1:n.*1077T>A
ENST00000695976.1:c.2761T>A	ENSP00000512303.1:p.Cys921Ser
ENST00000695981.1:c.2950T>A	ENSP00000512306.1:p.Cys984Ser
ENST00000695983.1:c.2862+88T>A	ENSP00000512308.1:n.2862+88T>A
ENST00000695984.1:c.958T>A	ENSP00000512309.1:p.Cys320Ser
ENST00000695986.1:c.*2601T>A	ENSP00000512311.1:n.*2601T>A
ENST00000696025.1:n.3034T>A
ENST00000696026.1:c.*1232T>A	ENSP00000512335.1:n.*1232T>A
ENST00000696027.1:c.2944T>A	ENSP00000512336.1:p.Cys982Ser
ENST00000696028.1:c.2884+66T>A	ENSP00000512337.1:n.2884+66T>A
ENST00000696029.1:c.2950T>A	ENSP00000512338.1:p.Cys984Ser
ENST00000696031.1:c.*2468T>A	ENSP00000512340.1:n.*2468T>A
ENST00000696032.1:c.2950T>A	ENSP00000512341.1:p.Cys984Ser
ENST00000696033.1:c.1160-39011T>A	ENSP00000512342.1:n.1160-39011T>A
ENST00000367429.9:c.2950T>A MANE Select	ENSP00000356399.4:p.Cys984Ser
ENST00000367429.8:c.2950T>A	ENSP00000356399.4:p.Cys984Ser
ENST00000466229.5:n.4966T>A
ENST00000470918.1:n.453T>A
NM_000186.3:c.2950T>A , LRG_47t1:c.2950T>A	NP_000177.2:p.Cys984Ser
XR_001737134.2:n.3136T>A
NM_000186.4:c.2950T>A MANE Select	NP_000177.2:p.Cys984Ser