Canonical Allele Identifier: CA343988102

Gene: CFH

Linked Data

• dbSNP Id: rs1653046552
• MyVariant Identifiers: chr1:g.196716367T>G (hg19) ; chr1:g.196747237T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747237T>G , CM000663.2:g.196747237T>G	GRCh38
NC_000001.10:g.196716367T>G , CM000663.1:g.196716367T>G	GRCh37
NC_000001.9:g.194982990T>G	NCBI36
NG_007259.1:g.100227T>G , LRG_47:g.100227T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4648T>G
ENST00000695970.1:c.3446T>G	ENSP00000512297.1:p.Leu1149Arg
ENST00000695971.1:c.3599T>G	ENSP00000512298.1:p.Leu1200Arg
ENST00000695972.1:c.*697T>G	ENSP00000512299.1:n.*697T>G
ENST00000695973.1:c.*1984T>G	ENSP00000512300.1:n.*1984T>G
ENST00000695974.1:c.3443T>G	ENSP00000512301.1:p.Leu1148Arg
ENST00000695975.1:c.*1747T>G	ENSP00000512302.1:n.*1747T>G
ENST00000695976.1:c.3431T>G	ENSP00000512303.1:p.Leu1144Arg
ENST00000695981.1:c.3580+40T>G	ENSP00000512306.1:n.3580+40T>G
ENST00000695984.1:c.1628T>G	ENSP00000512309.1:p.Leu543Arg
ENST00000695986.1:c.*3271T>G	ENSP00000512311.1:n.*3271T>G
ENST00000695990.1:n.654T>G
ENST00000696026.1:c.*1902T>G	ENSP00000512335.1:n.*1902T>G
ENST00000696027.1:c.3614T>G	ENSP00000512336.1:p.Leu1205Arg
ENST00000696028.1:c.3548T>G	ENSP00000512337.1:p.Leu1183Arg
ENST00000696029.1:c.3614T>G	ENSP00000512338.1:p.Leu1205Arg
ENST00000696031.1:c.*3138T>G	ENSP00000512340.1:n.*3138T>G
ENST00000696032.1:c.3580+40T>G	ENSP00000512341.1:n.3580+40T>G
ENST00000696033.1:c.1160-32560T>G	ENSP00000512342.1:n.1160-32560T>G
ENST00000367429.9:c.3620T>G MANE Select	ENSP00000356399.4:p.Leu1207Arg
ENST00000367429.8:c.3620T>G	ENSP00000356399.4:p.Leu1207Arg
ENST00000466229.5:n.6718T>G
NM_000186.3:c.3620T>G , LRG_47t1:c.3620T>G	NP_000177.2:p.Leu1207Arg
XR_001737134.2:n.3806T>G
NM_000186.4:c.3620T>G MANE Select	NP_000177.2:p.Leu1207Arg