Canonical Allele Identifier: CA343983856

Gene: CFH

Linked Data

• dbSNP Id: rs1221735925
• gnomAD v3: 1-196743572-G-A
• gnomAD v4: 1-196743572-G-A
• MyVariant Identifiers: chr1:g.196712702G>A (hg19) ; chr1:g.196743572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743572G>A , CM000663.2:g.196743572G>A	GRCh38
NC_000001.10:g.196712702G>A , CM000663.1:g.196712702G>A	GRCh37
NC_000001.9:g.194979325G>A	NCBI36
NG_007259.1:g.96562G>A , LRG_47:g.96562G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4282G>A
ENST00000695970.1:c.3080G>A	ENSP00000512297.1:p.Gly1027Glu
ENST00000695971.1:c.3233G>A	ENSP00000512298.1:p.Gly1078Glu
ENST00000695972.1:c.*331G>A	ENSP00000512299.1:n.*331G>A
ENST00000695973.1:c.*1618G>A	ENSP00000512300.1:n.*1618G>A
ENST00000695974.1:c.3077G>A	ENSP00000512301.1:p.Gly1026Glu
ENST00000695975.1:c.*1381G>A	ENSP00000512302.1:n.*1381G>A
ENST00000695976.1:c.3065G>A	ENSP00000512303.1:p.Gly1022Glu
ENST00000695981.1:c.3254G>A	ENSP00000512306.1:p.Gly1085Glu
ENST00000695984.1:c.1262G>A	ENSP00000512309.1:p.Gly421Glu
ENST00000695986.1:c.*2905G>A	ENSP00000512311.1:n.*2905G>A
ENST00000696026.1:c.*1536G>A	ENSP00000512335.1:n.*1536G>A
ENST00000696027.1:c.3248G>A	ENSP00000512336.1:p.Gly1083Glu
ENST00000696028.1:c.3182G>A	ENSP00000512337.1:p.Gly1061Glu
ENST00000696029.1:c.3248G>A	ENSP00000512338.1:p.Gly1083Glu
ENST00000696031.1:c.*2772G>A	ENSP00000512340.1:n.*2772G>A
ENST00000696032.1:c.3254G>A	ENSP00000512341.1:p.Gly1085Glu
ENST00000696033.1:c.1160-36225G>A	ENSP00000512342.1:n.1160-36225G>A
ENST00000367429.9:c.3254G>A MANE Select	ENSP00000356399.4:p.Gly1085Glu
ENST00000367429.8:c.3254G>A	ENSP00000356399.4:p.Gly1085Glu
ENST00000466229.5:n.6352G>A
NM_000186.3:c.3254G>A , LRG_47t1:c.3254G>A	NP_000177.2:p.Gly1085Glu
XR_001737134.2:n.3440G>A
NM_000186.4:c.3254G>A MANE Select	NP_000177.2:p.Gly1085Glu