Canonical Allele Identifier: CA422662908

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712667A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743537A>T , CM000663.2:g.196743537A>T	GRCh38
NC_000001.10:g.196712667A>T , CM000663.1:g.196712667A>T	GRCh37
NC_000001.9:g.194979290A>T	NCBI36
NG_007259.1:g.96527A>T , LRG_47:g.96527A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4247A>T
ENST00000695970.1:c.3045A>T	ENSP00000512297.1:p.Val1015=
ENST00000695971.1:c.3198A>T	ENSP00000512298.1:p.Val1066=
ENST00000695972.1:c.*296A>T	ENSP00000512299.1:n.*296A>T
ENST00000695973.1:c.*1583A>T	ENSP00000512300.1:n.*1583A>T
ENST00000695974.1:c.3042A>T	ENSP00000512301.1:p.Val1014=
ENST00000695975.1:c.*1346A>T	ENSP00000512302.1:n.*1346A>T
ENST00000695976.1:c.3030A>T	ENSP00000512303.1:p.Val1010=
ENST00000695981.1:c.3219A>T	ENSP00000512306.1:p.Val1073=
ENST00000695984.1:c.1227A>T	ENSP00000512309.1:p.Val409=
ENST00000695986.1:c.*2870A>T	ENSP00000512311.1:n.*2870A>T
ENST00000696026.1:c.*1501A>T	ENSP00000512335.1:n.*1501A>T
ENST00000696027.1:c.3213A>T	ENSP00000512336.1:p.Val1071=
ENST00000696028.1:c.3147A>T	ENSP00000512337.1:p.Val1049=
ENST00000696029.1:c.3213A>T	ENSP00000512338.1:p.Val1071=
ENST00000696031.1:c.*2737A>T	ENSP00000512340.1:n.*2737A>T
ENST00000696032.1:c.3219A>T	ENSP00000512341.1:p.Val1073=
ENST00000696033.1:c.1160-36260A>T	ENSP00000512342.1:n.1160-36260A>T
ENST00000367429.9:c.3219A>T MANE Select	ENSP00000356399.4:p.Val1073=
ENST00000367429.8:c.3219A>T	ENSP00000356399.4:p.Val1073=
ENST00000466229.5:n.6317A>T
NM_000186.3:c.3219A>T , LRG_47t1:c.3219A>T	NP_000177.2:p.Val1073=
XR_001737134.2:n.3405A>T
NM_000186.4:c.3219A>T MANE Select	NP_000177.2:p.Val1073=