Canonical Allele Identifier: CA343987995

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716350T>G (hg19) ; chr1:g.196747220T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747220T>G , CM000663.2:g.196747220T>G	GRCh38
NC_000001.10:g.196716350T>G , CM000663.1:g.196716350T>G	GRCh37
NC_000001.9:g.194982973T>G	NCBI36
NG_007259.1:g.100210T>G , LRG_47:g.100210T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4631T>G
ENST00000695970.1:c.3429T>G	ENSP00000512297.1:p.Cys1143Trp
ENST00000695971.1:c.3582T>G	ENSP00000512298.1:p.Cys1194Trp
ENST00000695972.1:c.*680T>G	ENSP00000512299.1:n.*680T>G
ENST00000695973.1:c.*1967T>G	ENSP00000512300.1:n.*1967T>G
ENST00000695974.1:c.3426T>G	ENSP00000512301.1:p.Cys1142Trp
ENST00000695975.1:c.*1730T>G	ENSP00000512302.1:n.*1730T>G
ENST00000695976.1:c.3414T>G	ENSP00000512303.1:p.Cys1138Trp
ENST00000695981.1:c.3580+23T>G	ENSP00000512306.1:n.3580+23T>G
ENST00000695984.1:c.1611T>G	ENSP00000512309.1:p.Cys537Trp
ENST00000695986.1:c.*3254T>G	ENSP00000512311.1:n.*3254T>G
ENST00000695990.1:n.637T>G
ENST00000696026.1:c.*1885T>G	ENSP00000512335.1:n.*1885T>G
ENST00000696027.1:c.3597T>G	ENSP00000512336.1:p.Cys1199Trp
ENST00000696028.1:c.3531T>G	ENSP00000512337.1:p.Cys1177Trp
ENST00000696029.1:c.3597T>G	ENSP00000512338.1:p.Cys1199Trp
ENST00000696031.1:c.*3121T>G	ENSP00000512340.1:n.*3121T>G
ENST00000696032.1:c.3580+23T>G	ENSP00000512341.1:n.3580+23T>G
ENST00000696033.1:c.1160-32577T>G	ENSP00000512342.1:n.1160-32577T>G
ENST00000367429.9:c.3603T>G MANE Select	ENSP00000356399.4:p.Cys1201Trp
ENST00000367429.8:c.3603T>G	ENSP00000356399.4:p.Cys1201Trp
ENST00000466229.5:n.6701T>G
NM_000186.3:c.3603T>G , LRG_47t1:c.3603T>G	NP_000177.2:p.Cys1201Trp
XR_001737134.2:n.3789T>G
NM_000186.4:c.3603T>G MANE Select	NP_000177.2:p.Cys1201Trp