Canonical Allele Identifier: CA343988018

Gene: CFH

Linked Data

• dbSNP Id: rs1238640278
• gnomAD v2: 1-196716355-G-A
• gnomAD v4: 1-196747225-G-A
• MyVariant Identifiers: chr1:g.196716355G>A (hg19) ; chr1:g.196747225G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747225G>A , CM000663.2:g.196747225G>A	GRCh38
NC_000001.10:g.196716355G>A , CM000663.1:g.196716355G>A	GRCh37
NC_000001.9:g.194982978G>A	NCBI36
NG_007259.1:g.100215G>A , LRG_47:g.100215G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4636G>A
ENST00000695970.1:c.3434G>A	ENSP00000512297.1:p.Arg1145Gln
ENST00000695971.1:c.3587G>A	ENSP00000512298.1:p.Arg1196Gln
ENST00000695972.1:c.*685G>A	ENSP00000512299.1:n.*685G>A
ENST00000695973.1:c.*1972G>A	ENSP00000512300.1:n.*1972G>A
ENST00000695974.1:c.3431G>A	ENSP00000512301.1:p.Arg1144Gln
ENST00000695975.1:c.*1735G>A	ENSP00000512302.1:n.*1735G>A
ENST00000695976.1:c.3419G>A	ENSP00000512303.1:p.Arg1140Gln
ENST00000695981.1:c.3580+28G>A	ENSP00000512306.1:n.3580+28G>A
ENST00000695984.1:c.1616G>A	ENSP00000512309.1:p.Arg539Gln
ENST00000695986.1:c.*3259G>A	ENSP00000512311.1:n.*3259G>A
ENST00000695990.1:n.642G>A
ENST00000696026.1:c.*1890G>A	ENSP00000512335.1:n.*1890G>A
ENST00000696027.1:c.3602G>A	ENSP00000512336.1:p.Arg1201Gln
ENST00000696028.1:c.3536G>A	ENSP00000512337.1:p.Arg1179Gln
ENST00000696029.1:c.3602G>A	ENSP00000512338.1:p.Arg1201Gln
ENST00000696031.1:c.*3126G>A	ENSP00000512340.1:n.*3126G>A
ENST00000696032.1:c.3580+28G>A	ENSP00000512341.1:n.3580+28G>A
ENST00000696033.1:c.1160-32572G>A	ENSP00000512342.1:n.1160-32572G>A
ENST00000367429.9:c.3608G>A MANE Select	ENSP00000356399.4:p.Arg1203Gln
ENST00000367429.8:c.3608G>A	ENSP00000356399.4:p.Arg1203Gln
ENST00000466229.5:n.6706G>A
NM_000186.3:c.3608G>A , LRG_47t1:c.3608G>A	NP_000177.2:p.Arg1203Gln
XR_001737134.2:n.3794G>A
NM_000186.4:c.3608G>A MANE Select	NP_000177.2:p.Arg1203Gln