Canonical Allele Identifier: CA343987790

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716330G>C (hg19) ; chr1:g.196747200G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747200G>C , CM000663.2:g.196747200G>C	GRCh38
NC_000001.10:g.196716330G>C , CM000663.1:g.196716330G>C	GRCh37
NC_000001.9:g.194982953G>C	NCBI36
NG_007259.1:g.100190G>C , LRG_47:g.100190G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4611G>C
ENST00000695970.1:c.3409G>C	ENSP00000512297.1:p.Glu1137Gln
ENST00000695971.1:c.3562G>C	ENSP00000512298.1:p.Glu1188Gln
ENST00000695972.1:c.*660G>C	ENSP00000512299.1:n.*660G>C
ENST00000695973.1:c.*1947G>C	ENSP00000512300.1:n.*1947G>C
ENST00000695974.1:c.3406G>C	ENSP00000512301.1:p.Glu1136Gln
ENST00000695975.1:c.*1710G>C	ENSP00000512302.1:n.*1710G>C
ENST00000695976.1:c.3394G>C	ENSP00000512303.1:p.Glu1132Gln
ENST00000695981.1:c.3580+3G>C	ENSP00000512306.1:n.3580+3G>C
ENST00000695984.1:c.1591G>C	ENSP00000512309.1:p.Glu531Gln
ENST00000695986.1:c.*3234G>C	ENSP00000512311.1:n.*3234G>C
ENST00000695990.1:n.617G>C
ENST00000696026.1:c.*1865G>C	ENSP00000512335.1:n.*1865G>C
ENST00000696027.1:c.3577G>C	ENSP00000512336.1:p.Glu1193Gln
ENST00000696028.1:c.3511G>C	ENSP00000512337.1:p.Glu1171Gln
ENST00000696029.1:c.3577G>C	ENSP00000512338.1:p.Glu1193Gln
ENST00000696031.1:c.*3101G>C	ENSP00000512340.1:n.*3101G>C
ENST00000696032.1:c.3580+3G>C	ENSP00000512341.1:n.3580+3G>C
ENST00000696033.1:c.1160-32597G>C	ENSP00000512342.1:n.1160-32597G>C
ENST00000367429.9:c.3583G>C MANE Select	ENSP00000356399.4:p.Glu1195Gln
ENST00000367429.8:c.3583G>C	ENSP00000356399.4:p.Glu1195Gln
ENST00000466229.5:n.6681G>C
NM_000186.3:c.3583G>C , LRG_47t1:c.3583G>C	NP_000177.2:p.Glu1195Gln
XR_001737134.2:n.3769G>C
NM_000186.4:c.3583G>C MANE Select	NP_000177.2:p.Glu1195Gln