Canonical Allele Identifier: CA343987992

Gene: CFH

Linked Data

• gnomAD v4: 1-196747219-G-T
• MyVariant Identifiers: chr1:g.196716349G>T (hg19) ; chr1:g.196747219G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4630G>T
ENST00000695970.1:c.3428G>T	ENSP00000512297.1:p.Cys1143Phe
ENST00000695971.1:c.3581G>T	ENSP00000512298.1:p.Cys1194Phe
ENST00000695972.1:c.*679G>T	ENSP00000512299.1:n.*679G>T
ENST00000695973.1:c.*1966G>T	ENSP00000512300.1:n.*1966G>T
ENST00000695974.1:c.3425G>T	ENSP00000512301.1:p.Cys1142Phe
ENST00000695975.1:c.*1729G>T	ENSP00000512302.1:n.*1729G>T
ENST00000695976.1:c.3413G>T	ENSP00000512303.1:p.Cys1138Phe
ENST00000695981.1:c.3580+22G>T	ENSP00000512306.1:n.3580+22G>T
ENST00000695984.1:c.1610G>T	ENSP00000512309.1:p.Cys537Phe
ENST00000695986.1:c.*3253G>T	ENSP00000512311.1:n.*3253G>T
ENST00000695990.1:n.636G>T
ENST00000696026.1:c.*1884G>T	ENSP00000512335.1:n.*1884G>T
ENST00000696027.1:c.3596G>T	ENSP00000512336.1:p.Cys1199Phe
ENST00000696028.1:c.3530G>T	ENSP00000512337.1:p.Cys1177Phe
ENST00000696029.1:c.3596G>T	ENSP00000512338.1:p.Cys1199Phe
ENST00000696031.1:c.*3120G>T	ENSP00000512340.1:n.*3120G>T
ENST00000696032.1:c.3580+22G>T	ENSP00000512341.1:n.3580+22G>T
ENST00000696033.1:c.1160-32578G>T	ENSP00000512342.1:n.1160-32578G>T
ENST00000367429.9:c.3602G>T MANE Select	ENSP00000356399.4:p.Cys1201Phe
ENST00000367429.8:c.3602G>T	ENSP00000356399.4:p.Cys1201Phe
ENST00000466229.5:n.6700G>T
NM_000186.3:c.3602G>T , LRG_47t1:c.3602G>T	NP_000177.2:p.Cys1201Phe
XR_001737134.2:n.3788G>T
NM_000186.4:c.3602G>T MANE Select	NP_000177.2:p.Cys1201Phe