Canonical Allele Identifier: CA343984066

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712740G>C (hg19) ; chr1:g.196743610G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743610G>C , CM000663.2:g.196743610G>C	GRCh38
NC_000001.10:g.196712740G>C , CM000663.1:g.196712740G>C	GRCh37
NC_000001.9:g.194979363G>C	NCBI36
NG_007259.1:g.96600G>C , LRG_47:g.96600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4320G>C
ENST00000695970.1:c.3118G>C	ENSP00000512297.1:p.Glu1040Gln
ENST00000695971.1:c.3271G>C	ENSP00000512298.1:p.Glu1091Gln
ENST00000695972.1:c.*369G>C	ENSP00000512299.1:n.*369G>C
ENST00000695973.1:c.*1656G>C	ENSP00000512300.1:n.*1656G>C
ENST00000695974.1:c.3115G>C	ENSP00000512301.1:p.Glu1039Gln
ENST00000695975.1:c.*1419G>C	ENSP00000512302.1:n.*1419G>C
ENST00000695976.1:c.3103G>C	ENSP00000512303.1:p.Glu1035Gln
ENST00000695981.1:c.3292G>C	ENSP00000512306.1:p.Glu1098Gln
ENST00000695984.1:c.1300G>C	ENSP00000512309.1:p.Glu434Gln
ENST00000695986.1:c.*2943G>C	ENSP00000512311.1:n.*2943G>C
ENST00000696026.1:c.*1574G>C	ENSP00000512335.1:n.*1574G>C
ENST00000696027.1:c.3286G>C	ENSP00000512336.1:p.Glu1096Gln
ENST00000696028.1:c.3220G>C	ENSP00000512337.1:p.Glu1074Gln
ENST00000696029.1:c.3286G>C	ENSP00000512338.1:p.Glu1096Gln
ENST00000696031.1:c.*2810G>C	ENSP00000512340.1:n.*2810G>C
ENST00000696032.1:c.3292G>C	ENSP00000512341.1:p.Glu1098Gln
ENST00000696033.1:c.1160-36187G>C	ENSP00000512342.1:n.1160-36187G>C
ENST00000367429.9:c.3292G>C MANE Select	ENSP00000356399.4:p.Glu1098Gln
ENST00000367429.8:c.3292G>C	ENSP00000356399.4:p.Glu1098Gln
ENST00000466229.5:n.6390G>C
NM_000186.3:c.3292G>C , LRG_47t1:c.3292G>C	NP_000177.2:p.Glu1098Gln
XR_001737134.2:n.3478G>C
NM_000186.4:c.3292G>C MANE Select	NP_000177.2:p.Glu1098Gln