Canonical Allele Identifier: CA343988087

Gene: CFH

Linked Data

• COSMIC: COSM279858
• MyVariant Identifiers: chr1:g.196716366C>A (hg19) ; chr1:g.196747236C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747236C>A , CM000663.2:g.196747236C>A	GRCh38
NC_000001.10:g.196716366C>A , CM000663.1:g.196716366C>A	GRCh37
NC_000001.9:g.194982989C>A	NCBI36
NG_007259.1:g.100226C>A , LRG_47:g.100226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4647C>A
ENST00000695970.1:c.3445C>A	ENSP00000512297.1:p.Leu1149Ile
ENST00000695971.1:c.3598C>A	ENSP00000512298.1:p.Leu1200Ile
ENST00000695972.1:c.*696C>A	ENSP00000512299.1:n.*696C>A
ENST00000695973.1:c.*1983C>A	ENSP00000512300.1:n.*1983C>A
ENST00000695974.1:c.3442C>A	ENSP00000512301.1:p.Leu1148Ile
ENST00000695975.1:c.*1746C>A	ENSP00000512302.1:n.*1746C>A
ENST00000695976.1:c.3430C>A	ENSP00000512303.1:p.Leu1144Ile
ENST00000695981.1:c.3580+39C>A	ENSP00000512306.1:n.3580+39C>A
ENST00000695984.1:c.1627C>A	ENSP00000512309.1:p.Leu543Ile
ENST00000695986.1:c.*3270C>A	ENSP00000512311.1:n.*3270C>A
ENST00000695990.1:n.653C>A
ENST00000696026.1:c.*1901C>A	ENSP00000512335.1:n.*1901C>A
ENST00000696027.1:c.3613C>A	ENSP00000512336.1:p.Leu1205Ile
ENST00000696028.1:c.3547C>A	ENSP00000512337.1:p.Leu1183Ile
ENST00000696029.1:c.3613C>A	ENSP00000512338.1:p.Leu1205Ile
ENST00000696031.1:c.*3137C>A	ENSP00000512340.1:n.*3137C>A
ENST00000696032.1:c.3580+39C>A	ENSP00000512341.1:n.3580+39C>A
ENST00000696033.1:c.1160-32561C>A	ENSP00000512342.1:n.1160-32561C>A
ENST00000367429.9:c.3619C>A MANE Select	ENSP00000356399.4:p.Leu1207Ile
ENST00000367429.8:c.3619C>A	ENSP00000356399.4:p.Leu1207Ile
ENST00000466229.5:n.6717C>A
NM_000186.3:c.3619C>A , LRG_47t1:c.3619C>A	NP_000177.2:p.Leu1207Ile
XR_001737134.2:n.3805C>A
NM_000186.4:c.3619C>A MANE Select	NP_000177.2:p.Leu1207Ile