Canonical Allele Identifier: CA1010869456

Gene: CFH

Linked Data

• dbSNP Id: rs1652786152
• gnomAD v3: 1-196740804-T-C
• gnomAD v4: 1-196740804-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740804T>C , CM000663.2:g.196740804T>C	GRCh38
NC_000001.10:g.196709934T>C , CM000663.1:g.196709934T>C	GRCh37
NC_000001.9:g.194976557T>C	NCBI36
NG_007259.1:g.93794T>C , LRG_47:g.93794T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.3234T>C
ENST00000695970.1:c.2783-1071T>C	ENSP00000512297.1:n.2783-1071T>C
ENST00000695971.1:c.2935+12T>C	ENSP00000512298.1:n.2935+12T>C
ENST00000695972.1:c.*33+12T>C	ENSP00000512299.1:n.*33+12T>C
ENST00000695973.1:c.*1320+12T>C	ENSP00000512300.1:n.*1320+12T>C
ENST00000695974.1:c.2779+12T>C	ENSP00000512301.1:n.2779+12T>C
ENST00000695975.1:c.*1083+12T>C	ENSP00000512302.1:n.*1083+12T>C
ENST00000695976.1:c.2767+12T>C	ENSP00000512303.1:n.2767+12T>C
ENST00000695981.1:c.2956+12T>C	ENSP00000512306.1:n.2956+12T>C
ENST00000695983.1:c.2862+106T>C	ENSP00000512308.1:n.2862+106T>C
ENST00000695984.1:c.964+12T>C	ENSP00000512309.1:n.964+12T>C
ENST00000695986.1:c.*2607+12T>C	ENSP00000512311.1:n.*2607+12T>C
ENST00000696025.1:n.3052T>C
ENST00000696026.1:c.*1238+12T>C	ENSP00000512335.1:n.*1238+12T>C
ENST00000696027.1:c.2950+12T>C	ENSP00000512336.1:n.2950+12T>C
ENST00000696028.1:c.2884+84T>C	ENSP00000512337.1:n.2884+84T>C
ENST00000696029.1:c.2956+12T>C	ENSP00000512338.1:n.2956+12T>C
ENST00000696031.1:c.*2474+12T>C	ENSP00000512340.1:n.*2474+12T>C
ENST00000696032.1:c.2956+12T>C	ENSP00000512341.1:n.2956+12T>C
ENST00000696033.1:c.1160-38993T>C	ENSP00000512342.1:n.1160-38993T>C
ENST00000367429.9:c.2956+12T>C MANE Select	ENSP00000356399.4:n.2956+12T>C
ENST00000367429.8:c.2956+12T>C	ENSP00000356399.4:n.2956+12T>C
ENST00000466229.5:n.4984T>C
ENST00000470918.1:n.471T>C
NM_000186.3:c.2956+12T>C , LRG_47t1:c.2956+12T>C	NP_000177.2:n.2956+12T>C
XR_001737134.2:n.3142+12T>C
NM_000186.4:c.2956+12T>C MANE Select	NP_000177.2:n.2956+12T>C