Canonical Allele Identifier: CA343987813

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716331A>C (hg19) ; chr1:g.196747201A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747201A>C , CM000663.2:g.196747201A>C	GRCh38
NC_000001.10:g.196716331A>C , CM000663.1:g.196716331A>C	GRCh37
NC_000001.9:g.194982954A>C	NCBI36
NG_007259.1:g.100191A>C , LRG_47:g.100191A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4612A>C
ENST00000695970.1:c.3410A>C	ENSP00000512297.1:p.Glu1137Ala
ENST00000695971.1:c.3563A>C	ENSP00000512298.1:p.Glu1188Ala
ENST00000695972.1:c.*661A>C	ENSP00000512299.1:n.*661A>C
ENST00000695973.1:c.*1948A>C	ENSP00000512300.1:n.*1948A>C
ENST00000695974.1:c.3407A>C	ENSP00000512301.1:p.Glu1136Ala
ENST00000695975.1:c.*1711A>C	ENSP00000512302.1:n.*1711A>C
ENST00000695976.1:c.3395A>C	ENSP00000512303.1:p.Glu1132Ala
ENST00000695981.1:c.3580+4A>C	ENSP00000512306.1:n.3580+4A>C
ENST00000695984.1:c.1592A>C	ENSP00000512309.1:p.Glu531Ala
ENST00000695986.1:c.*3235A>C	ENSP00000512311.1:n.*3235A>C
ENST00000695990.1:n.618A>C
ENST00000696026.1:c.*1866A>C	ENSP00000512335.1:n.*1866A>C
ENST00000696027.1:c.3578A>C	ENSP00000512336.1:p.Glu1193Ala
ENST00000696028.1:c.3512A>C	ENSP00000512337.1:p.Glu1171Ala
ENST00000696029.1:c.3578A>C	ENSP00000512338.1:p.Glu1193Ala
ENST00000696031.1:c.*3102A>C	ENSP00000512340.1:n.*3102A>C
ENST00000696032.1:c.3580+4A>C	ENSP00000512341.1:n.3580+4A>C
ENST00000696033.1:c.1160-32596A>C	ENSP00000512342.1:n.1160-32596A>C
ENST00000367429.9:c.3584A>C MANE Select	ENSP00000356399.4:p.Glu1195Ala
ENST00000367429.8:c.3584A>C	ENSP00000356399.4:p.Glu1195Ala
ENST00000466229.5:n.6682A>C
NM_000186.3:c.3584A>C , LRG_47t1:c.3584A>C	NP_000177.2:p.Glu1195Ala
XR_001737134.2:n.3770A>C
NM_000186.4:c.3584A>C MANE Select	NP_000177.2:p.Glu1195Ala