Canonical Allele Identifier: CA343989486

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716431T>G (hg19) ; chr1:g.196747301T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747301T>G , CM000663.2:g.196747301T>G	GRCh38
NC_000001.10:g.196716431T>G , CM000663.1:g.196716431T>G	GRCh37
NC_000001.9:g.194983054T>G	NCBI36
NG_007259.1:g.100291T>G , LRG_47:g.100291T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4712T>G
ENST00000695970.1:c.3510T>G	ENSP00000512297.1:p.Cys1170Trp
ENST00000695971.1:c.3663T>G	ENSP00000512298.1:p.Cys1221Trp
ENST00000695972.1:c.*761T>G	ENSP00000512299.1:n.*761T>G
ENST00000695973.1:c.*2048T>G	ENSP00000512300.1:n.*2048T>G
ENST00000695974.1:c.3507T>G	ENSP00000512301.1:p.Cys1169Trp
ENST00000695975.1:c.*1811T>G	ENSP00000512302.1:n.*1811T>G
ENST00000695976.1:c.3495T>G	ENSP00000512303.1:p.Cys1165Trp
ENST00000695981.1:c.3580+104T>G	ENSP00000512306.1:n.3580+104T>G
ENST00000695984.1:c.1692T>G	ENSP00000512309.1:p.Cys564Trp
ENST00000695986.1:c.*3335T>G	ENSP00000512311.1:n.*3335T>G
ENST00000695990.1:n.718T>G
ENST00000696026.1:c.*1966T>G	ENSP00000512335.1:n.*1966T>G
ENST00000696027.1:c.3678T>G	ENSP00000512336.1:p.Cys1226Trp
ENST00000696028.1:c.3612T>G	ENSP00000512337.1:p.Cys1204Trp
ENST00000696029.1:c.3678T>G	ENSP00000512338.1:p.Cys1226Trp
ENST00000696031.1:c.*3202T>G	ENSP00000512340.1:n.*3202T>G
ENST00000696032.1:c.3580+104T>G	ENSP00000512341.1:n.3580+104T>G
ENST00000696033.1:c.1160-32496T>G	ENSP00000512342.1:n.1160-32496T>G
ENST00000367429.9:c.3684T>G MANE Select	ENSP00000356399.4:p.Cys1228Trp
ENST00000367429.8:c.3684T>G	ENSP00000356399.4:p.Cys1228Trp
ENST00000466229.5:n.6782T>G
NM_000186.3:c.3684T>G , LRG_47t1:c.3684T>G	NP_000177.2:p.Cys1228Trp
XR_001737134.2:n.3870T>G
NM_000186.4:c.3684T>G MANE Select	NP_000177.2:p.Cys1228Trp