Canonical Allele Identifier: CA422663863

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716425A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747295A>T , CM000663.2:g.196747295A>T	GRCh38
NC_000001.10:g.196716425A>T , CM000663.1:g.196716425A>T	GRCh37
NC_000001.9:g.194983048A>T	NCBI36
NG_007259.1:g.100285A>T , LRG_47:g.100285A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4706A>T
ENST00000695970.1:c.3504A>T	ENSP00000512297.1:p.Pro1168=
ENST00000695971.1:c.3657A>T	ENSP00000512298.1:p.Pro1219=
ENST00000695972.1:c.*755A>T	ENSP00000512299.1:n.*755A>T
ENST00000695973.1:c.*2042A>T	ENSP00000512300.1:n.*2042A>T
ENST00000695974.1:c.3501A>T	ENSP00000512301.1:p.Pro1167=
ENST00000695975.1:c.*1805A>T	ENSP00000512302.1:n.*1805A>T
ENST00000695976.1:c.3489A>T	ENSP00000512303.1:p.Pro1163=
ENST00000695981.1:c.3580+98A>T	ENSP00000512306.1:n.3580+98A>T
ENST00000695984.1:c.1686A>T	ENSP00000512309.1:p.Pro562=
ENST00000695986.1:c.*3329A>T	ENSP00000512311.1:n.*3329A>T
ENST00000695990.1:n.712A>T
ENST00000696026.1:c.*1960A>T	ENSP00000512335.1:n.*1960A>T
ENST00000696027.1:c.3672A>T	ENSP00000512336.1:p.Pro1224=
ENST00000696028.1:c.3606A>T	ENSP00000512337.1:p.Pro1202=
ENST00000696029.1:c.3672A>T	ENSP00000512338.1:p.Pro1224=
ENST00000696031.1:c.*3196A>T	ENSP00000512340.1:n.*3196A>T
ENST00000696032.1:c.3580+98A>T	ENSP00000512341.1:n.3580+98A>T
ENST00000696033.1:c.1160-32502A>T	ENSP00000512342.1:n.1160-32502A>T
ENST00000367429.9:c.3678A>T MANE Select	ENSP00000356399.4:p.Pro1226=
ENST00000367429.8:c.3678A>T	ENSP00000356399.4:p.Pro1226=
ENST00000466229.5:n.6776A>T
NM_000186.3:c.3678A>T , LRG_47t1:c.3678A>T	NP_000177.2:p.Pro1226=
XR_001737134.2:n.3864A>T
NM_000186.4:c.3678A>T MANE Select	NP_000177.2:p.Pro1226=