Canonical Allele Identifier: CA1305881

Gene: CFH

Linked Data

• dbSNP Id: rs762407150
• ExAC: 1:196712669 G / C
• gnomAD v2: 1-196712669-G-C
• gnomAD v3: 1-196743539-G-C
• gnomAD v4: 1-196743539-G-C
• MyVariant Identifiers: chr1:g.196712669G>C (hg19) ; chr1:g.196743539G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743539G>C , CM000663.2:g.196743539G>C	GRCh38
NC_000001.10:g.196712669G>C , CM000663.1:g.196712669G>C	GRCh37
NC_000001.9:g.194979292G>C	NCBI36
NG_007259.1:g.96529G>C , LRG_47:g.96529G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4249G>C
ENST00000695970.1:c.3047G>C	ENSP00000512297.1:p.Arg1016Pro
ENST00000695971.1:c.3200G>C	ENSP00000512298.1:p.Arg1067Pro
ENST00000695972.1:c.*298G>C	ENSP00000512299.1:n.*298G>C
ENST00000695973.1:c.*1585G>C	ENSP00000512300.1:n.*1585G>C
ENST00000695974.1:c.3044G>C	ENSP00000512301.1:p.Arg1015Pro
ENST00000695975.1:c.*1348G>C	ENSP00000512302.1:n.*1348G>C
ENST00000695976.1:c.3032G>C	ENSP00000512303.1:p.Arg1011Pro
ENST00000695981.1:c.3221G>C	ENSP00000512306.1:p.Arg1074Pro
ENST00000695984.1:c.1229G>C	ENSP00000512309.1:p.Arg410Pro
ENST00000695986.1:c.*2872G>C	ENSP00000512311.1:n.*2872G>C
ENST00000696026.1:c.*1503G>C	ENSP00000512335.1:n.*1503G>C
ENST00000696027.1:c.3215G>C	ENSP00000512336.1:p.Arg1072Pro
ENST00000696028.1:c.3149G>C	ENSP00000512337.1:p.Arg1050Pro
ENST00000696029.1:c.3215G>C	ENSP00000512338.1:p.Arg1072Pro
ENST00000696031.1:c.*2739G>C	ENSP00000512340.1:n.*2739G>C
ENST00000696032.1:c.3221G>C	ENSP00000512341.1:p.Arg1074Pro
ENST00000696033.1:c.1160-36258G>C	ENSP00000512342.1:n.1160-36258G>C
ENST00000367429.9:c.3221G>C MANE Select	ENSP00000356399.4:p.Arg1074Pro
ENST00000367429.8:c.3221G>C	ENSP00000356399.4:p.Arg1074Pro
ENST00000466229.5:n.6319G>C
NM_000186.3:c.3221G>C , LRG_47t1:c.3221G>C	NP_000177.2:p.Arg1074Pro
XR_001737134.2:n.3407G>C
NM_000186.4:c.3221G>C MANE Select	NP_000177.2:p.Arg1074Pro