Canonical Allele Identifier: CA343987946

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716344T>A (hg19) ; chr1:g.196747214T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747214T>A , CM000663.2:g.196747214T>A	GRCh38
NC_000001.10:g.196716344T>A , CM000663.1:g.196716344T>A	GRCh37
NC_000001.9:g.194982967T>A	NCBI36
NG_007259.1:g.100204T>A , LRG_47:g.100204T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4625T>A
ENST00000695970.1:c.3423T>A	ENSP00000512297.1:p.Phe1141Leu
ENST00000695971.1:c.3576T>A	ENSP00000512298.1:p.Phe1192Leu
ENST00000695972.1:c.*674T>A	ENSP00000512299.1:n.*674T>A
ENST00000695973.1:c.*1961T>A	ENSP00000512300.1:n.*1961T>A
ENST00000695974.1:c.3420T>A	ENSP00000512301.1:p.Phe1140Leu
ENST00000695975.1:c.*1724T>A	ENSP00000512302.1:n.*1724T>A
ENST00000695976.1:c.3408T>A	ENSP00000512303.1:p.Phe1136Leu
ENST00000695981.1:c.3580+17T>A	ENSP00000512306.1:n.3580+17T>A
ENST00000695984.1:c.1605T>A	ENSP00000512309.1:p.Phe535Leu
ENST00000695986.1:c.*3248T>A	ENSP00000512311.1:n.*3248T>A
ENST00000695990.1:n.631T>A
ENST00000696026.1:c.*1879T>A	ENSP00000512335.1:n.*1879T>A
ENST00000696027.1:c.3591T>A	ENSP00000512336.1:p.Phe1197Leu
ENST00000696028.1:c.3525T>A	ENSP00000512337.1:p.Phe1175Leu
ENST00000696029.1:c.3591T>A	ENSP00000512338.1:p.Phe1197Leu
ENST00000696031.1:c.*3115T>A	ENSP00000512340.1:n.*3115T>A
ENST00000696032.1:c.3580+17T>A	ENSP00000512341.1:n.3580+17T>A
ENST00000696033.1:c.1160-32583T>A	ENSP00000512342.1:n.1160-32583T>A
ENST00000367429.9:c.3597T>A MANE Select	ENSP00000356399.4:p.Phe1199Leu
ENST00000367429.8:c.3597T>A	ENSP00000356399.4:p.Phe1199Leu
ENST00000466229.5:n.6695T>A
NM_000186.3:c.3597T>A , LRG_47t1:c.3597T>A	NP_000177.2:p.Phe1199Leu
XR_001737134.2:n.3783T>A
NM_000186.4:c.3597T>A MANE Select	NP_000177.2:p.Phe1199Leu