Canonical Allele Identifier: CA422662923

Gene: CFH

Linked Data

• gnomAD v4: 1-196743552-G-A
• MyVariant Identifiers: chr1:g.196712682G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743552G>A , CM000663.2:g.196743552G>A	GRCh38
NC_000001.10:g.196712682G>A , CM000663.1:g.196712682G>A	GRCh37
NC_000001.9:g.194979305G>A	NCBI36
NG_007259.1:g.96542G>A , LRG_47:g.96542G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4262G>A
ENST00000695970.1:c.3060G>A	ENSP00000512297.1:p.Arg1020=
ENST00000695971.1:c.3213G>A	ENSP00000512298.1:p.Arg1071=
ENST00000695972.1:c.*311G>A	ENSP00000512299.1:n.*311G>A
ENST00000695973.1:c.*1598G>A	ENSP00000512300.1:n.*1598G>A
ENST00000695974.1:c.3057G>A	ENSP00000512301.1:p.Arg1019=
ENST00000695975.1:c.*1361G>A	ENSP00000512302.1:n.*1361G>A
ENST00000695976.1:c.3045G>A	ENSP00000512303.1:p.Arg1015=
ENST00000695981.1:c.3234G>A	ENSP00000512306.1:p.Arg1078=
ENST00000695984.1:c.1242G>A	ENSP00000512309.1:p.Arg414=
ENST00000695986.1:c.*2885G>A	ENSP00000512311.1:n.*2885G>A
ENST00000696026.1:c.*1516G>A	ENSP00000512335.1:n.*1516G>A
ENST00000696027.1:c.3228G>A	ENSP00000512336.1:p.Arg1076=
ENST00000696028.1:c.3162G>A	ENSP00000512337.1:p.Arg1054=
ENST00000696029.1:c.3228G>A	ENSP00000512338.1:p.Arg1076=
ENST00000696031.1:c.*2752G>A	ENSP00000512340.1:n.*2752G>A
ENST00000696032.1:c.3234G>A	ENSP00000512341.1:p.Arg1078=
ENST00000696033.1:c.1160-36245G>A	ENSP00000512342.1:n.1160-36245G>A
ENST00000367429.9:c.3234G>A MANE Select	ENSP00000356399.4:p.Arg1078=
ENST00000367429.8:c.3234G>A	ENSP00000356399.4:p.Arg1078=
ENST00000466229.5:n.6332G>A
NM_000186.3:c.3234G>A , LRG_47t1:c.3234G>A	NP_000177.2:p.Arg1078=
XR_001737134.2:n.3420G>A
NM_000186.4:c.3234G>A MANE Select	NP_000177.2:p.Arg1078=