Canonical Allele Identifier: CA343980755

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196659310A>G (hg19) ; chr1:g.196690180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690180A>G , CM000663.2:g.196690180A>G	GRCh38
NC_000001.10:g.196659310A>G , CM000663.1:g.196659310A>G	GRCh37
NC_000001.9:g.194925933A>G	NCBI36
NG_007259.1:g.43170A>G , LRG_47:g.43170A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1085A>G	ENSP00000352658.2:p.Gln362Arg
ENST00000470918.2:n.1543A>G
ENST00000695968.1:c.1094A>G	ENSP00000512295.1:p.Gln365Arg
ENST00000695969.1:c.1277A>G	ENSP00000512296.1:p.Gln426Arg
ENST00000695970.1:c.1277A>G	ENSP00000512297.1:p.Gln426Arg
ENST00000695971.1:c.1256A>G	ENSP00000512298.1:p.Gln419Arg
ENST00000695972.1:c.1277A>G	ENSP00000512299.1:p.Gln426Arg
ENST00000695973.1:c.1277A>G	ENSP00000512300.1:p.Gln426Arg
ENST00000695974.1:c.1277A>G	ENSP00000512301.1:p.Gln426Arg
ENST00000695975.1:c.1277A>G	ENSP00000512302.1:p.Gln426Arg
ENST00000695976.1:c.1088A>G	ENSP00000512303.1:p.Gln363Arg
ENST00000695977.1:n.118A>G
ENST00000695978.1:c.1277A>G	ENSP00000512304.1:p.Gln426Arg
ENST00000695979.1:c.1256A>G	ENSP00000512305.1:p.Gln419Arg
ENST00000695980.1:n.1397A>G
ENST00000695981.1:c.1277A>G	ENSP00000512306.1:p.Gln426Arg
ENST00000695983.1:c.1277A>G	ENSP00000512308.1:p.Gln426Arg
ENST00000695984.1:c.244+17017A>G	ENSP00000512309.1:n.244+17017A>G
ENST00000695986.1:c.*928A>G	ENSP00000512311.1:n.*928A>G
ENST00000695987.1:c.1088A>G	ENSP00000512312.1:p.Gln363Arg
ENST00000696018.1:n.1361A>G
ENST00000696019.1:n.1361A>G
ENST00000696020.1:n.1361A>G
ENST00000696021.1:n.1340A>G
ENST00000696022.1:n.1361A>G
ENST00000696023.1:c.1277A>G	ENSP00000512334.1:p.Gln426Arg
ENST00000696024.1:n.1361A>G
ENST00000696025.1:n.1361A>G
ENST00000696026.1:c.1277A>G	ENSP00000512335.1:p.Gln426Arg
ENST00000696027.1:c.1277A>G	ENSP00000512336.1:p.Gln426Arg
ENST00000696028.1:c.1277A>G	ENSP00000512337.1:p.Gln426Arg
ENST00000696029.1:c.1277A>G	ENSP00000512338.1:p.Gln426Arg
ENST00000696030.1:c.1202A>G	ENSP00000512339.1:p.Gln401Arg
ENST00000696031.1:c.*795A>G	ENSP00000512340.1:n.*795A>G
ENST00000696032.1:c.1277A>G	ENSP00000512341.1:p.Gln426Arg
ENST00000696033.1:c.1159+566A>G	ENSP00000512342.1:n.1159+566A>G
ENST00000367429.9:c.1277A>G MANE Select	ENSP00000356399.4:p.Gln426Arg
ENST00000359637.2:c.1085A>G	ENSP00000352658.2:p.Gln362Arg
ENST00000367429.8:c.1277A>G	ENSP00000356399.4:p.Gln426Arg
ENST00000466229.5:n.3293A>G
ENST00000630130.2:c.1277A>G	ENSP00000487250.1:p.Gln426Arg
NM_000186.3:c.1277A>G , LRG_47t1:c.1277A>G	NP_000177.2:p.Gln426Arg
NM_001014975.2:c.1277A>G	NP_001014975.1:p.Gln426Arg
XM_017001108.2:c.1277A>G	XP_016856597.1:p.Gln426Arg
XR_001737134.2:n.1362A>G
NM_000186.4:c.1277A>G MANE Select	NP_000177.2:p.Gln426Arg
NM_001014975.3:c.1277A>G	NP_001014975.1:p.Gln426Arg