Canonical Allele Identifier: CA422663545

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716329T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747199T>A , CM000663.2:g.196747199T>A	GRCh38
NC_000001.10:g.196716329T>A , CM000663.1:g.196716329T>A	GRCh37
NC_000001.9:g.194982952T>A	NCBI36
NG_007259.1:g.100189T>A , LRG_47:g.100189T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4610T>A
ENST00000695970.1:c.3408T>A	ENSP00000512297.1:p.Gly1136=
ENST00000695971.1:c.3561T>A	ENSP00000512298.1:p.Gly1187=
ENST00000695972.1:c.*659T>A	ENSP00000512299.1:n.*659T>A
ENST00000695973.1:c.*1946T>A	ENSP00000512300.1:n.*1946T>A
ENST00000695974.1:c.3405T>A	ENSP00000512301.1:p.Gly1135=
ENST00000695975.1:c.*1709T>A	ENSP00000512302.1:n.*1709T>A
ENST00000695976.1:c.3393T>A	ENSP00000512303.1:p.Gly1131=
ENST00000695981.1:c.3580+2T>A	ENSP00000512306.1:n.3580+2T>A
ENST00000695984.1:c.1590T>A	ENSP00000512309.1:p.Gly530=
ENST00000695986.1:c.*3233T>A	ENSP00000512311.1:n.*3233T>A
ENST00000695990.1:n.616T>A
ENST00000696026.1:c.*1864T>A	ENSP00000512335.1:n.*1864T>A
ENST00000696027.1:c.3576T>A	ENSP00000512336.1:p.Gly1192=
ENST00000696028.1:c.3510T>A	ENSP00000512337.1:p.Gly1170=
ENST00000696029.1:c.3576T>A	ENSP00000512338.1:p.Gly1192=
ENST00000696031.1:c.*3100T>A	ENSP00000512340.1:n.*3100T>A
ENST00000696032.1:c.3580+2T>A	ENSP00000512341.1:n.3580+2T>A
ENST00000696033.1:c.1160-32598T>A	ENSP00000512342.1:n.1160-32598T>A
ENST00000367429.9:c.3582T>A MANE Select	ENSP00000356399.4:p.Gly1194=
ENST00000367429.8:c.3582T>A	ENSP00000356399.4:p.Gly1194=
ENST00000466229.5:n.6680T>A
NM_000186.3:c.3582T>A , LRG_47t1:c.3582T>A	NP_000177.2:p.Gly1194=
XR_001737134.2:n.3768T>A
NM_000186.4:c.3582T>A MANE Select	NP_000177.2:p.Gly1194=