Canonical Allele Identifier: CA422663562

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716338T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747208T>G , CM000663.2:g.196747208T>G	GRCh38
NC_000001.10:g.196716338T>G , CM000663.1:g.196716338T>G	GRCh37
NC_000001.9:g.194982961T>G	NCBI36
NG_007259.1:g.100198T>G , LRG_47:g.100198T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4619T>G
ENST00000695970.1:c.3417T>G	ENSP00000512297.1:p.Val1139=
ENST00000695971.1:c.3570T>G	ENSP00000512298.1:p.Val1190=
ENST00000695972.1:c.*668T>G	ENSP00000512299.1:n.*668T>G
ENST00000695973.1:c.*1955T>G	ENSP00000512300.1:n.*1955T>G
ENST00000695974.1:c.3414T>G	ENSP00000512301.1:p.Val1138=
ENST00000695975.1:c.*1718T>G	ENSP00000512302.1:n.*1718T>G
ENST00000695976.1:c.3402T>G	ENSP00000512303.1:p.Val1134=
ENST00000695981.1:c.3580+11T>G	ENSP00000512306.1:n.3580+11T>G
ENST00000695984.1:c.1599T>G	ENSP00000512309.1:p.Val533=
ENST00000695986.1:c.*3242T>G	ENSP00000512311.1:n.*3242T>G
ENST00000695990.1:n.625T>G
ENST00000696026.1:c.*1873T>G	ENSP00000512335.1:n.*1873T>G
ENST00000696027.1:c.3585T>G	ENSP00000512336.1:p.Val1195=
ENST00000696028.1:c.3519T>G	ENSP00000512337.1:p.Val1173=
ENST00000696029.1:c.3585T>G	ENSP00000512338.1:p.Val1195=
ENST00000696031.1:c.*3109T>G	ENSP00000512340.1:n.*3109T>G
ENST00000696032.1:c.3580+11T>G	ENSP00000512341.1:n.3580+11T>G
ENST00000696033.1:c.1160-32589T>G	ENSP00000512342.1:n.1160-32589T>G
ENST00000367429.9:c.3591T>G MANE Select	ENSP00000356399.4:p.Val1197=
ENST00000367429.8:c.3591T>G	ENSP00000356399.4:p.Val1197=
ENST00000466229.5:n.6689T>G
NM_000186.3:c.3591T>G , LRG_47t1:c.3591T>G	NP_000177.2:p.Val1197=
XR_001737134.2:n.3777T>G
NM_000186.4:c.3591T>G MANE Select	NP_000177.2:p.Val1197=