Canonical Allele Identifier: CA343987819

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716332A>C (hg19) ; chr1:g.196747202A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747202A>C , CM000663.2:g.196747202A>C	GRCh38
NC_000001.10:g.196716332A>C , CM000663.1:g.196716332A>C	GRCh37
NC_000001.9:g.194982955A>C	NCBI36
NG_007259.1:g.100192A>C , LRG_47:g.100192A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4613A>C
ENST00000695970.1:c.3411A>C	ENSP00000512297.1:p.Glu1137Asp
ENST00000695971.1:c.3564A>C	ENSP00000512298.1:p.Glu1188Asp
ENST00000695972.1:c.*662A>C	ENSP00000512299.1:n.*662A>C
ENST00000695973.1:c.*1949A>C	ENSP00000512300.1:n.*1949A>C
ENST00000695974.1:c.3408A>C	ENSP00000512301.1:p.Glu1136Asp
ENST00000695975.1:c.*1712A>C	ENSP00000512302.1:n.*1712A>C
ENST00000695976.1:c.3396A>C	ENSP00000512303.1:p.Glu1132Asp
ENST00000695981.1:c.3580+5A>C	ENSP00000512306.1:n.3580+5A>C
ENST00000695984.1:c.1593A>C	ENSP00000512309.1:p.Glu531Asp
ENST00000695986.1:c.*3236A>C	ENSP00000512311.1:n.*3236A>C
ENST00000695990.1:n.619A>C
ENST00000696026.1:c.*1867A>C	ENSP00000512335.1:n.*1867A>C
ENST00000696027.1:c.3579A>C	ENSP00000512336.1:p.Glu1193Asp
ENST00000696028.1:c.3513A>C	ENSP00000512337.1:p.Glu1171Asp
ENST00000696029.1:c.3579A>C	ENSP00000512338.1:p.Glu1193Asp
ENST00000696031.1:c.*3103A>C	ENSP00000512340.1:n.*3103A>C
ENST00000696032.1:c.3580+5A>C	ENSP00000512341.1:n.3580+5A>C
ENST00000696033.1:c.1160-32595A>C	ENSP00000512342.1:n.1160-32595A>C
ENST00000367429.9:c.3585A>C MANE Select	ENSP00000356399.4:p.Glu1195Asp
ENST00000367429.8:c.3585A>C	ENSP00000356399.4:p.Glu1195Asp
ENST00000466229.5:n.6683A>C
NM_000186.3:c.3585A>C , LRG_47t1:c.3585A>C	NP_000177.2:p.Glu1195Asp
XR_001737134.2:n.3771A>C
NM_000186.4:c.3585A>C MANE Select	NP_000177.2:p.Glu1195Asp