Canonical Allele Identifier: CA343987935

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716343T>A (hg19) ; chr1:g.196747213T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747213T>A , CM000663.2:g.196747213T>A	GRCh38
NC_000001.10:g.196716343T>A , CM000663.1:g.196716343T>A	GRCh37
NC_000001.9:g.194982966T>A	NCBI36
NG_007259.1:g.100203T>A , LRG_47:g.100203T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4624T>A
ENST00000695970.1:c.3422T>A	ENSP00000512297.1:p.Phe1141Tyr
ENST00000695971.1:c.3575T>A	ENSP00000512298.1:p.Phe1192Tyr
ENST00000695972.1:c.*673T>A	ENSP00000512299.1:n.*673T>A
ENST00000695973.1:c.*1960T>A	ENSP00000512300.1:n.*1960T>A
ENST00000695974.1:c.3419T>A	ENSP00000512301.1:p.Phe1140Tyr
ENST00000695975.1:c.*1723T>A	ENSP00000512302.1:n.*1723T>A
ENST00000695976.1:c.3407T>A	ENSP00000512303.1:p.Phe1136Tyr
ENST00000695981.1:c.3580+16T>A	ENSP00000512306.1:n.3580+16T>A
ENST00000695984.1:c.1604T>A	ENSP00000512309.1:p.Phe535Tyr
ENST00000695986.1:c.*3247T>A	ENSP00000512311.1:n.*3247T>A
ENST00000695990.1:n.630T>A
ENST00000696026.1:c.*1878T>A	ENSP00000512335.1:n.*1878T>A
ENST00000696027.1:c.3590T>A	ENSP00000512336.1:p.Phe1197Tyr
ENST00000696028.1:c.3524T>A	ENSP00000512337.1:p.Phe1175Tyr
ENST00000696029.1:c.3590T>A	ENSP00000512338.1:p.Phe1197Tyr
ENST00000696031.1:c.*3114T>A	ENSP00000512340.1:n.*3114T>A
ENST00000696032.1:c.3580+16T>A	ENSP00000512341.1:n.3580+16T>A
ENST00000696033.1:c.1160-32584T>A	ENSP00000512342.1:n.1160-32584T>A
ENST00000367429.9:c.3596T>A MANE Select	ENSP00000356399.4:p.Phe1199Tyr
ENST00000367429.8:c.3596T>A	ENSP00000356399.4:p.Phe1199Tyr
ENST00000466229.5:n.6694T>A
NM_000186.3:c.3596T>A , LRG_47t1:c.3596T>A	NP_000177.2:p.Phe1199Tyr
XR_001737134.2:n.3782T>A
NM_000186.4:c.3596T>A MANE Select	NP_000177.2:p.Phe1199Tyr