Canonical Allele Identifier: CA343983951

Gene: CFH

Linked Data

• dbSNP Id: rs1652892640
• MyVariant Identifiers: chr1:g.196712720G>A (hg19) ; chr1:g.196743590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743590G>A , CM000663.2:g.196743590G>A	GRCh38
NC_000001.10:g.196712720G>A , CM000663.1:g.196712720G>A	GRCh37
NC_000001.9:g.194979343G>A	NCBI36
NG_007259.1:g.96580G>A , LRG_47:g.96580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4300G>A
ENST00000695970.1:c.3098G>A	ENSP00000512297.1:p.Cys1033Tyr
ENST00000695971.1:c.3251G>A	ENSP00000512298.1:p.Cys1084Tyr
ENST00000695972.1:c.*349G>A	ENSP00000512299.1:n.*349G>A
ENST00000695973.1:c.*1636G>A	ENSP00000512300.1:n.*1636G>A
ENST00000695974.1:c.3095G>A	ENSP00000512301.1:p.Cys1032Tyr
ENST00000695975.1:c.*1399G>A	ENSP00000512302.1:n.*1399G>A
ENST00000695976.1:c.3083G>A	ENSP00000512303.1:p.Cys1028Tyr
ENST00000695981.1:c.3272G>A	ENSP00000512306.1:p.Cys1091Tyr
ENST00000695984.1:c.1280G>A	ENSP00000512309.1:p.Cys427Tyr
ENST00000695986.1:c.*2923G>A	ENSP00000512311.1:n.*2923G>A
ENST00000696026.1:c.*1554G>A	ENSP00000512335.1:n.*1554G>A
ENST00000696027.1:c.3266G>A	ENSP00000512336.1:p.Cys1089Tyr
ENST00000696028.1:c.3200G>A	ENSP00000512337.1:p.Cys1067Tyr
ENST00000696029.1:c.3266G>A	ENSP00000512338.1:p.Cys1089Tyr
ENST00000696031.1:c.*2790G>A	ENSP00000512340.1:n.*2790G>A
ENST00000696032.1:c.3272G>A	ENSP00000512341.1:p.Cys1091Tyr
ENST00000696033.1:c.1160-36207G>A	ENSP00000512342.1:n.1160-36207G>A
ENST00000367429.9:c.3272G>A MANE Select	ENSP00000356399.4:p.Cys1091Tyr
ENST00000367429.8:c.3272G>A	ENSP00000356399.4:p.Cys1091Tyr
ENST00000466229.5:n.6370G>A
NM_000186.3:c.3272G>A , LRG_47t1:c.3272G>A	NP_000177.2:p.Cys1091Tyr
XR_001737134.2:n.3458G>A
NM_000186.4:c.3272G>A MANE Select	NP_000177.2:p.Cys1091Tyr