Canonical Allele Identifier: CA343989114

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716401T>G (hg19) ; chr1:g.196747271T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747271T>G , CM000663.2:g.196747271T>G	GRCh38
NC_000001.10:g.196716401T>G , CM000663.1:g.196716401T>G	GRCh37
NC_000001.9:g.194983024T>G	NCBI36
NG_007259.1:g.100261T>G , LRG_47:g.100261T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4682T>G
ENST00000695970.1:c.3480T>G	ENSP00000512297.1:p.Cys1160Trp
ENST00000695971.1:c.3633T>G	ENSP00000512298.1:p.Cys1211Trp
ENST00000695972.1:c.*731T>G	ENSP00000512299.1:n.*731T>G
ENST00000695973.1:c.*2018T>G	ENSP00000512300.1:n.*2018T>G
ENST00000695974.1:c.3477T>G	ENSP00000512301.1:p.Cys1159Trp
ENST00000695975.1:c.*1781T>G	ENSP00000512302.1:n.*1781T>G
ENST00000695976.1:c.3465T>G	ENSP00000512303.1:p.Cys1155Trp
ENST00000695981.1:c.3580+74T>G	ENSP00000512306.1:n.3580+74T>G
ENST00000695984.1:c.1662T>G	ENSP00000512309.1:p.Cys554Trp
ENST00000695986.1:c.*3305T>G	ENSP00000512311.1:n.*3305T>G
ENST00000695990.1:n.688T>G
ENST00000696026.1:c.*1936T>G	ENSP00000512335.1:n.*1936T>G
ENST00000696027.1:c.3648T>G	ENSP00000512336.1:p.Cys1216Trp
ENST00000696028.1:c.3582T>G	ENSP00000512337.1:p.Cys1194Trp
ENST00000696029.1:c.3648T>G	ENSP00000512338.1:p.Cys1216Trp
ENST00000696031.1:c.*3172T>G	ENSP00000512340.1:n.*3172T>G
ENST00000696032.1:c.3580+74T>G	ENSP00000512341.1:n.3580+74T>G
ENST00000696033.1:c.1160-32526T>G	ENSP00000512342.1:n.1160-32526T>G
ENST00000367429.9:c.3654T>G MANE Select	ENSP00000356399.4:p.Cys1218Trp
ENST00000367429.8:c.3654T>G	ENSP00000356399.4:p.Cys1218Trp
ENST00000466229.5:n.6752T>G
NM_000186.3:c.3654T>G , LRG_47t1:c.3654T>G	NP_000177.2:p.Cys1218Trp
XR_001737134.2:n.3840T>G
NM_000186.4:c.3654T>G MANE Select	NP_000177.2:p.Cys1218Trp