Canonical Allele Identifier: CA343988202

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716387T>G (hg19) ; chr1:g.196747257T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747257T>G , CM000663.2:g.196747257T>G	GRCh38
NC_000001.10:g.196716387T>G , CM000663.1:g.196716387T>G	GRCh37
NC_000001.9:g.194983010T>G	NCBI36
NG_007259.1:g.100247T>G , LRG_47:g.100247T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4668T>G
ENST00000695970.1:c.3466T>G	ENSP00000512297.1:p.Leu1156Val
ENST00000695971.1:c.3619T>G	ENSP00000512298.1:p.Leu1207Val
ENST00000695972.1:c.*717T>G	ENSP00000512299.1:n.*717T>G
ENST00000695973.1:c.*2004T>G	ENSP00000512300.1:n.*2004T>G
ENST00000695974.1:c.3463T>G	ENSP00000512301.1:p.Leu1155Val
ENST00000695975.1:c.*1767T>G	ENSP00000512302.1:n.*1767T>G
ENST00000695976.1:c.3451T>G	ENSP00000512303.1:p.Leu1151Val
ENST00000695981.1:c.3580+60T>G	ENSP00000512306.1:n.3580+60T>G
ENST00000695984.1:c.1648T>G	ENSP00000512309.1:p.Leu550Val
ENST00000695986.1:c.*3291T>G	ENSP00000512311.1:n.*3291T>G
ENST00000695990.1:n.674T>G
ENST00000696026.1:c.*1922T>G	ENSP00000512335.1:n.*1922T>G
ENST00000696027.1:c.3634T>G	ENSP00000512336.1:p.Leu1212Val
ENST00000696028.1:c.3568T>G	ENSP00000512337.1:p.Leu1190Val
ENST00000696029.1:c.3634T>G	ENSP00000512338.1:p.Leu1212Val
ENST00000696031.1:c.*3158T>G	ENSP00000512340.1:n.*3158T>G
ENST00000696032.1:c.3580+60T>G	ENSP00000512341.1:n.3580+60T>G
ENST00000696033.1:c.1160-32540T>G	ENSP00000512342.1:n.1160-32540T>G
ENST00000367429.9:c.3640T>G MANE Select	ENSP00000356399.4:p.Leu1214Val
ENST00000367429.8:c.3640T>G	ENSP00000356399.4:p.Leu1214Val
ENST00000466229.5:n.6738T>G
NM_000186.3:c.3640T>G , LRG_47t1:c.3640T>G	NP_000177.2:p.Leu1214Val
XR_001737134.2:n.3826T>G
NM_000186.4:c.3640T>G MANE Select	NP_000177.2:p.Leu1214Val