Canonical Allele Identifier: CA343982725

Gene: CFH

Linked Data

• gnomAD v4: 1-196743452-A-G
• MyVariant Identifiers: chr1:g.196712582A>G (hg19) ; chr1:g.196743452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743452A>G , CM000663.2:g.196743452A>G	GRCh38
NC_000001.10:g.196712582A>G , CM000663.1:g.196712582A>G	GRCh37
NC_000001.9:g.194979205A>G	NCBI36
NG_007259.1:g.96442A>G , LRG_47:g.96442A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4162A>G
ENST00000695970.1:c.2960A>G	ENSP00000512297.1:p.Asp987Gly
ENST00000695971.1:c.3113A>G	ENSP00000512298.1:p.Asp1038Gly
ENST00000695972.1:c.*211A>G	ENSP00000512299.1:n.*211A>G
ENST00000695973.1:c.*1498A>G	ENSP00000512300.1:n.*1498A>G
ENST00000695974.1:c.2957A>G	ENSP00000512301.1:p.Asp986Gly
ENST00000695975.1:c.*1261A>G	ENSP00000512302.1:n.*1261A>G
ENST00000695976.1:c.2945A>G	ENSP00000512303.1:p.Asp982Gly
ENST00000695981.1:c.3134A>G	ENSP00000512306.1:p.Asp1045Gly
ENST00000695984.1:c.1142A>G	ENSP00000512309.1:p.Asp381Gly
ENST00000695986.1:c.*2785A>G	ENSP00000512311.1:n.*2785A>G
ENST00000696026.1:c.*1416A>G	ENSP00000512335.1:n.*1416A>G
ENST00000696027.1:c.3128A>G	ENSP00000512336.1:p.Asp1043Gly
ENST00000696028.1:c.3062A>G	ENSP00000512337.1:p.Asp1021Gly
ENST00000696029.1:c.3128A>G	ENSP00000512338.1:p.Asp1043Gly
ENST00000696031.1:c.*2652A>G	ENSP00000512340.1:n.*2652A>G
ENST00000696032.1:c.3134A>G	ENSP00000512341.1:p.Asp1045Gly
ENST00000696033.1:c.1160-36345A>G	ENSP00000512342.1:n.1160-36345A>G
ENST00000367429.9:c.3134A>G MANE Select	ENSP00000356399.4:p.Asp1045Gly
ENST00000367429.8:c.3134A>G	ENSP00000356399.4:p.Asp1045Gly
ENST00000466229.5:n.6232A>G
NM_000186.3:c.3134A>G , LRG_47t1:c.3134A>G	NP_000177.2:p.Asp1045Gly
XR_001737134.2:n.3320A>G
NM_000186.4:c.3134A>G MANE Select	NP_000177.2:p.Asp1045Gly