Canonical Allele Identifier: CA343987977

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716348T>C (hg19) ; chr1:g.196747218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747218T>C , CM000663.2:g.196747218T>C	GRCh38
NC_000001.10:g.196716348T>C , CM000663.1:g.196716348T>C	GRCh37
NC_000001.9:g.194982971T>C	NCBI36
NG_007259.1:g.100208T>C , LRG_47:g.100208T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4629T>C
ENST00000695970.1:c.3427T>C	ENSP00000512297.1:p.Cys1143Arg
ENST00000695971.1:c.3580T>C	ENSP00000512298.1:p.Cys1194Arg
ENST00000695972.1:c.*678T>C	ENSP00000512299.1:n.*678T>C
ENST00000695973.1:c.*1965T>C	ENSP00000512300.1:n.*1965T>C
ENST00000695974.1:c.3424T>C	ENSP00000512301.1:p.Cys1142Arg
ENST00000695975.1:c.*1728T>C	ENSP00000512302.1:n.*1728T>C
ENST00000695976.1:c.3412T>C	ENSP00000512303.1:p.Cys1138Arg
ENST00000695981.1:c.3580+21T>C	ENSP00000512306.1:n.3580+21T>C
ENST00000695984.1:c.1609T>C	ENSP00000512309.1:p.Cys537Arg
ENST00000695986.1:c.*3252T>C	ENSP00000512311.1:n.*3252T>C
ENST00000695990.1:n.635T>C
ENST00000696026.1:c.*1883T>C	ENSP00000512335.1:n.*1883T>C
ENST00000696027.1:c.3595T>C	ENSP00000512336.1:p.Cys1199Arg
ENST00000696028.1:c.3529T>C	ENSP00000512337.1:p.Cys1177Arg
ENST00000696029.1:c.3595T>C	ENSP00000512338.1:p.Cys1199Arg
ENST00000696031.1:c.*3119T>C	ENSP00000512340.1:n.*3119T>C
ENST00000696032.1:c.3580+21T>C	ENSP00000512341.1:n.3580+21T>C
ENST00000696033.1:c.1160-32579T>C	ENSP00000512342.1:n.1160-32579T>C
ENST00000367429.9:c.3601T>C MANE Select	ENSP00000356399.4:p.Cys1201Arg
ENST00000367429.8:c.3601T>C	ENSP00000356399.4:p.Cys1201Arg
ENST00000466229.5:n.6699T>C
NM_000186.3:c.3601T>C , LRG_47t1:c.3601T>C	NP_000177.2:p.Cys1201Arg
XR_001737134.2:n.3787T>C
NM_000186.4:c.3601T>C MANE Select	NP_000177.2:p.Cys1201Arg