Canonical Allele Identifier: CA422663547

Gene: CFH

Linked Data

• dbSNP Id: rs1653044110
• MyVariant Identifiers: chr1:g.196716329T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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