Canonical Allele Identifier: CA343982778

Gene: CFH

Linked Data

• dbSNP Id: rs1361153905
• gnomAD v3: 1-196743460-T-C
• gnomAD v4: 1-196743460-T-C
• MyVariant Identifiers: chr1:g.196712590T>C (hg19) ; chr1:g.196743460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743460T>C , CM000663.2:g.196743460T>C	GRCh38
NC_000001.10:g.196712590T>C , CM000663.1:g.196712590T>C	GRCh37
NC_000001.9:g.194979213T>C	NCBI36
NG_007259.1:g.96450T>C , LRG_47:g.96450T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4170T>C
ENST00000695970.1:c.2968T>C	ENSP00000512297.1:p.Cys990Arg
ENST00000695971.1:c.3121T>C	ENSP00000512298.1:p.Cys1041Arg
ENST00000695972.1:c.*219T>C	ENSP00000512299.1:n.*219T>C
ENST00000695973.1:c.*1506T>C	ENSP00000512300.1:n.*1506T>C
ENST00000695974.1:c.2965T>C	ENSP00000512301.1:p.Cys989Arg
ENST00000695975.1:c.*1269T>C	ENSP00000512302.1:n.*1269T>C
ENST00000695976.1:c.2953T>C	ENSP00000512303.1:p.Cys985Arg
ENST00000695981.1:c.3142T>C	ENSP00000512306.1:p.Cys1048Arg
ENST00000695984.1:c.1150T>C	ENSP00000512309.1:p.Cys384Arg
ENST00000695986.1:c.*2793T>C	ENSP00000512311.1:n.*2793T>C
ENST00000696026.1:c.*1424T>C	ENSP00000512335.1:n.*1424T>C
ENST00000696027.1:c.3136T>C	ENSP00000512336.1:p.Cys1046Arg
ENST00000696028.1:c.3070T>C	ENSP00000512337.1:p.Cys1024Arg
ENST00000696029.1:c.3136T>C	ENSP00000512338.1:p.Cys1046Arg
ENST00000696031.1:c.*2660T>C	ENSP00000512340.1:n.*2660T>C
ENST00000696032.1:c.3142T>C	ENSP00000512341.1:p.Cys1048Arg
ENST00000696033.1:c.1160-36337T>C	ENSP00000512342.1:n.1160-36337T>C
ENST00000367429.9:c.3142T>C MANE Select	ENSP00000356399.4:p.Cys1048Arg
ENST00000367429.8:c.3142T>C	ENSP00000356399.4:p.Cys1048Arg
ENST00000466229.5:n.6240T>C
NM_000186.3:c.3142T>C , LRG_47t1:c.3142T>C	NP_000177.2:p.Cys1048Arg
XR_001737134.2:n.3328T>C
NM_000186.4:c.3142T>C MANE Select	NP_000177.2:p.Cys1048Arg