Canonical Allele Identifier: CA343988061

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716361A>G (hg19) ; chr1:g.196747231A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747231A>G , CM000663.2:g.196747231A>G	GRCh38
NC_000001.10:g.196716361A>G , CM000663.1:g.196716361A>G	GRCh37
NC_000001.9:g.194982984A>G	NCBI36
NG_007259.1:g.100221A>G , LRG_47:g.100221A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4642A>G
ENST00000695970.1:c.3440A>G	ENSP00000512297.1:p.Tyr1147Cys
ENST00000695971.1:c.3593A>G	ENSP00000512298.1:p.Tyr1198Cys
ENST00000695972.1:c.*691A>G	ENSP00000512299.1:n.*691A>G
ENST00000695973.1:c.*1978A>G	ENSP00000512300.1:n.*1978A>G
ENST00000695974.1:c.3437A>G	ENSP00000512301.1:p.Tyr1146Cys
ENST00000695975.1:c.*1741A>G	ENSP00000512302.1:n.*1741A>G
ENST00000695976.1:c.3425A>G	ENSP00000512303.1:p.Tyr1142Cys
ENST00000695981.1:c.3580+34A>G	ENSP00000512306.1:n.3580+34A>G
ENST00000695984.1:c.1622A>G	ENSP00000512309.1:p.Tyr541Cys
ENST00000695986.1:c.*3265A>G	ENSP00000512311.1:n.*3265A>G
ENST00000695990.1:n.648A>G
ENST00000696026.1:c.*1896A>G	ENSP00000512335.1:n.*1896A>G
ENST00000696027.1:c.3608A>G	ENSP00000512336.1:p.Tyr1203Cys
ENST00000696028.1:c.3542A>G	ENSP00000512337.1:p.Tyr1181Cys
ENST00000696029.1:c.3608A>G	ENSP00000512338.1:p.Tyr1203Cys
ENST00000696031.1:c.*3132A>G	ENSP00000512340.1:n.*3132A>G
ENST00000696032.1:c.3580+34A>G	ENSP00000512341.1:n.3580+34A>G
ENST00000696033.1:c.1160-32566A>G	ENSP00000512342.1:n.1160-32566A>G
ENST00000367429.9:c.3614A>G MANE Select	ENSP00000356399.4:p.Tyr1205Cys
ENST00000367429.8:c.3614A>G	ENSP00000356399.4:p.Tyr1205Cys
ENST00000466229.5:n.6712A>G
NM_000186.3:c.3614A>G , LRG_47t1:c.3614A>G	NP_000177.2:p.Tyr1205Cys
XR_001737134.2:n.3800A>G
NM_000186.4:c.3614A>G MANE Select	NP_000177.2:p.Tyr1205Cys