Canonical Allele Identifier: CA343987986

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716349G>A (hg19) ; chr1:g.196747219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747219G>A , CM000663.2:g.196747219G>A	GRCh38
NC_000001.10:g.196716349G>A , CM000663.1:g.196716349G>A	GRCh37
NC_000001.9:g.194982972G>A	NCBI36
NG_007259.1:g.100209G>A , LRG_47:g.100209G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4630G>A
ENST00000695970.1:c.3428G>A	ENSP00000512297.1:p.Cys1143Tyr
ENST00000695971.1:c.3581G>A	ENSP00000512298.1:p.Cys1194Tyr
ENST00000695972.1:c.*679G>A	ENSP00000512299.1:n.*679G>A
ENST00000695973.1:c.*1966G>A	ENSP00000512300.1:n.*1966G>A
ENST00000695974.1:c.3425G>A	ENSP00000512301.1:p.Cys1142Tyr
ENST00000695975.1:c.*1729G>A	ENSP00000512302.1:n.*1729G>A
ENST00000695976.1:c.3413G>A	ENSP00000512303.1:p.Cys1138Tyr
ENST00000695981.1:c.3580+22G>A	ENSP00000512306.1:n.3580+22G>A
ENST00000695984.1:c.1610G>A	ENSP00000512309.1:p.Cys537Tyr
ENST00000695986.1:c.*3253G>A	ENSP00000512311.1:n.*3253G>A
ENST00000695990.1:n.636G>A
ENST00000696026.1:c.*1884G>A	ENSP00000512335.1:n.*1884G>A
ENST00000696027.1:c.3596G>A	ENSP00000512336.1:p.Cys1199Tyr
ENST00000696028.1:c.3530G>A	ENSP00000512337.1:p.Cys1177Tyr
ENST00000696029.1:c.3596G>A	ENSP00000512338.1:p.Cys1199Tyr
ENST00000696031.1:c.*3120G>A	ENSP00000512340.1:n.*3120G>A
ENST00000696032.1:c.3580+22G>A	ENSP00000512341.1:n.3580+22G>A
ENST00000696033.1:c.1160-32578G>A	ENSP00000512342.1:n.1160-32578G>A
ENST00000367429.9:c.3602G>A MANE Select	ENSP00000356399.4:p.Cys1201Tyr
ENST00000367429.8:c.3602G>A	ENSP00000356399.4:p.Cys1201Tyr
ENST00000466229.5:n.6700G>A
NM_000186.3:c.3602G>A , LRG_47t1:c.3602G>A	NP_000177.2:p.Cys1201Tyr
XR_001737134.2:n.3788G>A
NM_000186.4:c.3602G>A MANE Select	NP_000177.2:p.Cys1201Tyr