Canonical Allele Identifier: CA343987971

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716346T>G (hg19) ; chr1:g.196747216T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747216T>G , CM000663.2:g.196747216T>G	GRCh38
NC_000001.10:g.196716346T>G , CM000663.1:g.196716346T>G	GRCh37
NC_000001.9:g.194982969T>G	NCBI36
NG_007259.1:g.100206T>G , LRG_47:g.100206T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4627T>G
ENST00000695970.1:c.3425T>G	ENSP00000512297.1:p.Val1142Gly
ENST00000695971.1:c.3578T>G	ENSP00000512298.1:p.Val1193Gly
ENST00000695972.1:c.*676T>G	ENSP00000512299.1:n.*676T>G
ENST00000695973.1:c.*1963T>G	ENSP00000512300.1:n.*1963T>G
ENST00000695974.1:c.3422T>G	ENSP00000512301.1:p.Val1141Gly
ENST00000695975.1:c.*1726T>G	ENSP00000512302.1:n.*1726T>G
ENST00000695976.1:c.3410T>G	ENSP00000512303.1:p.Val1137Gly
ENST00000695981.1:c.3580+19T>G	ENSP00000512306.1:n.3580+19T>G
ENST00000695984.1:c.1607T>G	ENSP00000512309.1:p.Val536Gly
ENST00000695986.1:c.*3250T>G	ENSP00000512311.1:n.*3250T>G
ENST00000695990.1:n.633T>G
ENST00000696026.1:c.*1881T>G	ENSP00000512335.1:n.*1881T>G
ENST00000696027.1:c.3593T>G	ENSP00000512336.1:p.Val1198Gly
ENST00000696028.1:c.3527T>G	ENSP00000512337.1:p.Val1176Gly
ENST00000696029.1:c.3593T>G	ENSP00000512338.1:p.Val1198Gly
ENST00000696031.1:c.*3117T>G	ENSP00000512340.1:n.*3117T>G
ENST00000696032.1:c.3580+19T>G	ENSP00000512341.1:n.3580+19T>G
ENST00000696033.1:c.1160-32581T>G	ENSP00000512342.1:n.1160-32581T>G
ENST00000367429.9:c.3599T>G MANE Select	ENSP00000356399.4:p.Val1200Gly
ENST00000367429.8:c.3599T>G	ENSP00000356399.4:p.Val1200Gly
ENST00000466229.5:n.6697T>G
NM_000186.3:c.3599T>G , LRG_47t1:c.3599T>G	NP_000177.2:p.Val1200Gly
XR_001737134.2:n.3785T>G
NM_000186.4:c.3599T>G MANE Select	NP_000177.2:p.Val1200Gly