Canonical Allele Identifier: CA422663553

Gene: CFH

Linked Data

• gnomAD v4: 1-196747205-A-G
• MyVariant Identifiers: chr1:g.196716335A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747205A>G , CM000663.2:g.196747205A>G	GRCh38
NC_000001.10:g.196716335A>G , CM000663.1:g.196716335A>G	GRCh37
NC_000001.9:g.194982958A>G	NCBI36
NG_007259.1:g.100195A>G , LRG_47:g.100195A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4616A>G
ENST00000695970.1:c.3414A>G	ENSP00000512297.1:p.Ser1138=
ENST00000695971.1:c.3567A>G	ENSP00000512298.1:p.Ser1189=
ENST00000695972.1:c.*665A>G	ENSP00000512299.1:n.*665A>G
ENST00000695973.1:c.*1952A>G	ENSP00000512300.1:n.*1952A>G
ENST00000695974.1:c.3411A>G	ENSP00000512301.1:p.Ser1137=
ENST00000695975.1:c.*1715A>G	ENSP00000512302.1:n.*1715A>G
ENST00000695976.1:c.3399A>G	ENSP00000512303.1:p.Ser1133=
ENST00000695981.1:c.3580+8A>G	ENSP00000512306.1:n.3580+8A>G
ENST00000695984.1:c.1596A>G	ENSP00000512309.1:p.Ser532=
ENST00000695986.1:c.*3239A>G	ENSP00000512311.1:n.*3239A>G
ENST00000695990.1:n.622A>G
ENST00000696026.1:c.*1870A>G	ENSP00000512335.1:n.*1870A>G
ENST00000696027.1:c.3582A>G	ENSP00000512336.1:p.Ser1194=
ENST00000696028.1:c.3516A>G	ENSP00000512337.1:p.Ser1172=
ENST00000696029.1:c.3582A>G	ENSP00000512338.1:p.Ser1194=
ENST00000696031.1:c.*3106A>G	ENSP00000512340.1:n.*3106A>G
ENST00000696032.1:c.3580+8A>G	ENSP00000512341.1:n.3580+8A>G
ENST00000696033.1:c.1160-32592A>G	ENSP00000512342.1:n.1160-32592A>G
ENST00000367429.9:c.3588A>G MANE Select	ENSP00000356399.4:p.Ser1196=
ENST00000367429.8:c.3588A>G	ENSP00000356399.4:p.Ser1196=
ENST00000466229.5:n.6686A>G
NM_000186.3:c.3588A>G , LRG_47t1:c.3588A>G	NP_000177.2:p.Ser1196=
XR_001737134.2:n.3774A>G
NM_000186.4:c.3588A>G MANE Select	NP_000177.2:p.Ser1196=