Canonical Allele Identifier: CA343986963

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716246T>G (hg19) ; chr1:g.196747116T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747116T>G , CM000663.2:g.196747116T>G	GRCh38
NC_000001.10:g.196716246T>G , CM000663.1:g.196716246T>G	GRCh37
NC_000001.9:g.194982869T>G	NCBI36
NG_007259.1:g.100106T>G , LRG_47:g.100106T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4527T>G
ENST00000695970.1:c.3325T>G	ENSP00000512297.1:p.Cys1109Gly
ENST00000695971.1:c.3478T>G	ENSP00000512298.1:p.Cys1160Gly
ENST00000695972.1:c.*576T>G	ENSP00000512299.1:n.*576T>G
ENST00000695973.1:c.*1863T>G	ENSP00000512300.1:n.*1863T>G
ENST00000695974.1:c.3322T>G	ENSP00000512301.1:p.Cys1108Gly
ENST00000695975.1:c.*1626T>G	ENSP00000512302.1:n.*1626T>G
ENST00000695976.1:c.3310T>G	ENSP00000512303.1:p.Cys1104Gly
ENST00000695981.1:c.3499T>G	ENSP00000512306.1:p.Cys1167Gly
ENST00000695984.1:c.1507T>G	ENSP00000512309.1:p.Cys503Gly
ENST00000695986.1:c.*3150T>G	ENSP00000512311.1:n.*3150T>G
ENST00000695990.1:n.533T>G
ENST00000696026.1:c.*1781T>G	ENSP00000512335.1:n.*1781T>G
ENST00000696027.1:c.3493T>G	ENSP00000512336.1:p.Cys1165Gly
ENST00000696028.1:c.3427T>G	ENSP00000512337.1:p.Cys1143Gly
ENST00000696029.1:c.3493T>G	ENSP00000512338.1:p.Cys1165Gly
ENST00000696031.1:c.*3017T>G	ENSP00000512340.1:n.*3017T>G
ENST00000696032.1:c.3499T>G	ENSP00000512341.1:p.Cys1167Gly
ENST00000696033.1:c.1160-32681T>G	ENSP00000512342.1:n.1160-32681T>G
ENST00000367429.9:c.3499T>G MANE Select	ENSP00000356399.4:p.Cys1167Gly
ENST00000367429.8:c.3499T>G	ENSP00000356399.4:p.Cys1167Gly
ENST00000466229.5:n.6597T>G
NM_000186.3:c.3499T>G , LRG_47t1:c.3499T>G	NP_000177.2:p.Cys1167Gly
XR_001737134.2:n.3685T>G
NM_000186.4:c.3499T>G MANE Select	NP_000177.2:p.Cys1167Gly