Canonical Allele Identifier: CA422663442

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716257C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747127C>G , CM000663.2:g.196747127C>G	GRCh38
NC_000001.10:g.196716257C>G , CM000663.1:g.196716257C>G	GRCh37
NC_000001.9:g.194982880C>G	NCBI36
NG_007259.1:g.100117C>G , LRG_47:g.100117C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4538C>G
ENST00000695970.1:c.3336C>G	ENSP00000512297.1:p.Ser1112=
ENST00000695971.1:c.3489C>G	ENSP00000512298.1:p.Ser1163=
ENST00000695972.1:c.*587C>G	ENSP00000512299.1:n.*587C>G
ENST00000695973.1:c.*1874C>G	ENSP00000512300.1:n.*1874C>G
ENST00000695974.1:c.3333C>G	ENSP00000512301.1:p.Ser1111=
ENST00000695975.1:c.*1637C>G	ENSP00000512302.1:n.*1637C>G
ENST00000695976.1:c.3321C>G	ENSP00000512303.1:p.Ser1107=
ENST00000695981.1:c.3510C>G	ENSP00000512306.1:p.Ser1170=
ENST00000695984.1:c.1518C>G	ENSP00000512309.1:p.Ser506=
ENST00000695986.1:c.*3161C>G	ENSP00000512311.1:n.*3161C>G
ENST00000695990.1:n.544C>G
ENST00000696026.1:c.*1792C>G	ENSP00000512335.1:n.*1792C>G
ENST00000696027.1:c.3504C>G	ENSP00000512336.1:p.Ser1168=
ENST00000696028.1:c.3438C>G	ENSP00000512337.1:p.Ser1146=
ENST00000696029.1:c.3504C>G	ENSP00000512338.1:p.Ser1168=
ENST00000696031.1:c.*3028C>G	ENSP00000512340.1:n.*3028C>G
ENST00000696032.1:c.3510C>G	ENSP00000512341.1:p.Ser1170=
ENST00000696033.1:c.1160-32670C>G	ENSP00000512342.1:n.1160-32670C>G
ENST00000367429.9:c.3510C>G MANE Select	ENSP00000356399.4:p.Ser1170=
ENST00000367429.8:c.3510C>G	ENSP00000356399.4:p.Ser1170=
ENST00000466229.5:n.6608C>G
NM_000186.3:c.3510C>G , LRG_47t1:c.3510C>G	NP_000177.2:p.Ser1170=
XR_001737134.2:n.3696C>G
NM_000186.4:c.3510C>G MANE Select	NP_000177.2:p.Ser1170=