Canonical Allele Identifier: CA422663824

Gene: CFH

Linked Data

• gnomAD v4: 1-196747268-A-G
• MyVariant Identifiers: chr1:g.196716398A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747268A>G , CM000663.2:g.196747268A>G	GRCh38
NC_000001.10:g.196716398A>G , CM000663.1:g.196716398A>G	GRCh37
NC_000001.9:g.194983021A>G	NCBI36
NG_007259.1:g.100258A>G , LRG_47:g.100258A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4679A>G
ENST00000695970.1:c.3477A>G	ENSP00000512297.1:p.Thr1159=
ENST00000695971.1:c.3630A>G	ENSP00000512298.1:p.Thr1210=
ENST00000695972.1:c.*728A>G	ENSP00000512299.1:n.*728A>G
ENST00000695973.1:c.*2015A>G	ENSP00000512300.1:n.*2015A>G
ENST00000695974.1:c.3474A>G	ENSP00000512301.1:p.Thr1158=
ENST00000695975.1:c.*1778A>G	ENSP00000512302.1:n.*1778A>G
ENST00000695976.1:c.3462A>G	ENSP00000512303.1:p.Thr1154=
ENST00000695981.1:c.3580+71A>G	ENSP00000512306.1:n.3580+71A>G
ENST00000695984.1:c.1659A>G	ENSP00000512309.1:p.Thr553=
ENST00000695986.1:c.*3302A>G	ENSP00000512311.1:n.*3302A>G
ENST00000695990.1:n.685A>G
ENST00000696026.1:c.*1933A>G	ENSP00000512335.1:n.*1933A>G
ENST00000696027.1:c.3645A>G	ENSP00000512336.1:p.Thr1215=
ENST00000696028.1:c.3579A>G	ENSP00000512337.1:p.Thr1193=
ENST00000696029.1:c.3645A>G	ENSP00000512338.1:p.Thr1215=
ENST00000696031.1:c.*3169A>G	ENSP00000512340.1:n.*3169A>G
ENST00000696032.1:c.3580+71A>G	ENSP00000512341.1:n.3580+71A>G
ENST00000696033.1:c.1160-32529A>G	ENSP00000512342.1:n.1160-32529A>G
ENST00000367429.9:c.3651A>G MANE Select	ENSP00000356399.4:p.Thr1217=
ENST00000367429.8:c.3651A>G	ENSP00000356399.4:p.Thr1217=
ENST00000466229.5:n.6749A>G
NM_000186.3:c.3651A>G , LRG_47t1:c.3651A>G	NP_000177.2:p.Thr1217=
XR_001737134.2:n.3837A>G
NM_000186.4:c.3651A>G MANE Select	NP_000177.2:p.Thr1217=