Canonical Allele Identifier: CA35816135

Gene: CFH

Linked Data

• dbSNP Id: rs971266376
• gnomAD v2: 1-196716331-A-G
• gnomAD v4: 1-196747201-A-G
• MyVariant Identifiers: chr1:g.196716331A>G (hg19) ; chr1:g.196747201A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747201A>G , CM000663.2:g.196747201A>G	GRCh38
NC_000001.10:g.196716331A>G , CM000663.1:g.196716331A>G	GRCh37
NC_000001.9:g.194982954A>G	NCBI36
NG_007259.1:g.100191A>G , LRG_47:g.100191A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4612A>G
ENST00000695970.1:c.3410A>G	ENSP00000512297.1:p.Glu1137Gly
ENST00000695971.1:c.3563A>G	ENSP00000512298.1:p.Glu1188Gly
ENST00000695972.1:c.*661A>G	ENSP00000512299.1:n.*661A>G
ENST00000695973.1:c.*1948A>G	ENSP00000512300.1:n.*1948A>G
ENST00000695974.1:c.3407A>G	ENSP00000512301.1:p.Glu1136Gly
ENST00000695975.1:c.*1711A>G	ENSP00000512302.1:n.*1711A>G
ENST00000695976.1:c.3395A>G	ENSP00000512303.1:p.Glu1132Gly
ENST00000695981.1:c.3580+4A>G	ENSP00000512306.1:n.3580+4A>G
ENST00000695984.1:c.1592A>G	ENSP00000512309.1:p.Glu531Gly
ENST00000695986.1:c.*3235A>G	ENSP00000512311.1:n.*3235A>G
ENST00000695990.1:n.618A>G
ENST00000696026.1:c.*1866A>G	ENSP00000512335.1:n.*1866A>G
ENST00000696027.1:c.3578A>G	ENSP00000512336.1:p.Glu1193Gly
ENST00000696028.1:c.3512A>G	ENSP00000512337.1:p.Glu1171Gly
ENST00000696029.1:c.3578A>G	ENSP00000512338.1:p.Glu1193Gly
ENST00000696031.1:c.*3102A>G	ENSP00000512340.1:n.*3102A>G
ENST00000696032.1:c.3580+4A>G	ENSP00000512341.1:n.3580+4A>G
ENST00000696033.1:c.1160-32596A>G	ENSP00000512342.1:n.1160-32596A>G
ENST00000367429.9:c.3584A>G MANE Select	ENSP00000356399.4:p.Glu1195Gly
ENST00000367429.8:c.3584A>G	ENSP00000356399.4:p.Glu1195Gly
ENST00000466229.5:n.6682A>G
NM_000186.3:c.3584A>G , LRG_47t1:c.3584A>G	NP_000177.2:p.Glu1195Gly
XR_001737134.2:n.3770A>G
NM_000186.4:c.3584A>G MANE Select	NP_000177.2:p.Glu1195Gly