Canonical Allele Identifier: CA343987372

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716291A>G (hg19) ; chr1:g.196747161A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747161A>G , CM000663.2:g.196747161A>G	GRCh38
NC_000001.10:g.196716291A>G , CM000663.1:g.196716291A>G	GRCh37
NC_000001.9:g.194982914A>G	NCBI36
NG_007259.1:g.100151A>G , LRG_47:g.100151A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4572A>G
ENST00000695970.1:c.3370A>G	ENSP00000512297.1:p.Arg1124Gly
ENST00000695971.1:c.3523A>G	ENSP00000512298.1:p.Arg1175Gly
ENST00000695972.1:c.*621A>G	ENSP00000512299.1:n.*621A>G
ENST00000695973.1:c.*1908A>G	ENSP00000512300.1:n.*1908A>G
ENST00000695974.1:c.3367A>G	ENSP00000512301.1:p.Arg1123Gly
ENST00000695975.1:c.*1671A>G	ENSP00000512302.1:n.*1671A>G
ENST00000695976.1:c.3355A>G	ENSP00000512303.1:p.Arg1119Gly
ENST00000695981.1:c.3544A>G	ENSP00000512306.1:p.Arg1182Gly
ENST00000695984.1:c.1552A>G	ENSP00000512309.1:p.Arg518Gly
ENST00000695986.1:c.*3195A>G	ENSP00000512311.1:n.*3195A>G
ENST00000695990.1:n.578A>G
ENST00000696026.1:c.*1826A>G	ENSP00000512335.1:n.*1826A>G
ENST00000696027.1:c.3538A>G	ENSP00000512336.1:p.Arg1180Gly
ENST00000696028.1:c.3472A>G	ENSP00000512337.1:p.Arg1158Gly
ENST00000696029.1:c.3538A>G	ENSP00000512338.1:p.Arg1180Gly
ENST00000696031.1:c.*3062A>G	ENSP00000512340.1:n.*3062A>G
ENST00000696032.1:c.3544A>G	ENSP00000512341.1:p.Arg1182Gly
ENST00000696033.1:c.1160-32636A>G	ENSP00000512342.1:n.1160-32636A>G
ENST00000367429.9:c.3544A>G MANE Select	ENSP00000356399.4:p.Arg1182Gly
ENST00000367429.8:c.3544A>G	ENSP00000356399.4:p.Arg1182Gly
ENST00000466229.5:n.6642A>G
NM_000186.3:c.3544A>G , LRG_47t1:c.3544A>G	NP_000177.2:p.Arg1182Gly
XR_001737134.2:n.3730A>G
NM_000186.4:c.3544A>G MANE Select	NP_000177.2:p.Arg1182Gly