Canonical Allele Identifier: CA1010872665

Gene: CFH

Linked Data

• dbSNP Id: rs1653054175
• gnomAD v3: 1-196747388-T-C
• gnomAD v4: 1-196747388-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747388T>C , CM000663.2:g.196747388T>C	GRCh38
NC_000001.10:g.196716518T>C , CM000663.1:g.196716518T>C	GRCh37
NC_000001.9:g.194983141T>C	NCBI36
NG_007259.1:g.100378T>C , LRG_47:g.100378T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4799T>C
ENST00000695970.1:c.*75T>C	ENSP00000512297.1:n.*75T>C
ENST00000695971.1:c.*75T>C	ENSP00000512298.1:n.*75T>C
ENST00000695972.1:c.*848T>C	ENSP00000512299.1:n.*848T>C
ENST00000695973.1:c.*2135T>C	ENSP00000512300.1:n.*2135T>C
ENST00000695974.1:c.*75T>C	ENSP00000512301.1:n.*75T>C
ENST00000695975.1:c.*1898T>C	ENSP00000512302.1:n.*1898T>C
ENST00000695976.1:c.*75T>C	ENSP00000512303.1:n.*75T>C
ENST00000695981.1:c.3580+191T>C	ENSP00000512306.1:n.3580+191T>C
ENST00000695984.1:c.*75T>C	ENSP00000512309.1:n.*75T>C
ENST00000695986.1:c.*3422T>C	ENSP00000512311.1:n.*3422T>C
ENST00000695990.1:n.805T>C
ENST00000696026.1:c.*2053T>C	ENSP00000512335.1:n.*2053T>C
ENST00000696027.1:c.*75T>C	ENSP00000512336.1:n.*75T>C
ENST00000696028.1:c.*75T>C	ENSP00000512337.1:n.*75T>C
ENST00000696029.1:c.*75T>C	ENSP00000512338.1:n.*75T>C
ENST00000696031.1:c.*3289T>C	ENSP00000512340.1:n.*3289T>C
ENST00000696032.1:c.3580+191T>C	ENSP00000512341.1:n.3580+191T>C
ENST00000696033.1:c.1160-32409T>C	ENSP00000512342.1:n.1160-32409T>C
ENST00000367429.9:c.*75T>C MANE Select	ENSP00000356399.4:n.*75T>C
ENST00000367429.8:c.*75T>C	ENSP00000356399.4:n.*75T>C
ENST00000466229.5:n.6869T>C
NM_000186.3:c.*75T>C , LRG_47t1:c.*75T>C	NP_000177.2:n.*75T>C
XR_001737134.2:n.3957T>C
NM_000186.4:c.*75T>C MANE Select	NP_000177.2:n.*75T>C