Canonical Allele Identifier: CA343983310

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712637G>C (hg19) ; chr1:g.196743507G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743507G>C , CM000663.2:g.196743507G>C	GRCh38
NC_000001.10:g.196712637G>C , CM000663.1:g.196712637G>C	GRCh37
NC_000001.9:g.194979260G>C	NCBI36
NG_007259.1:g.96497G>C , LRG_47:g.96497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4217G>C
ENST00000695970.1:c.3015G>C	ENSP00000512297.1:p.Gln1005His
ENST00000695971.1:c.3168G>C	ENSP00000512298.1:p.Gln1056His
ENST00000695972.1:c.*266G>C	ENSP00000512299.1:n.*266G>C
ENST00000695973.1:c.*1553G>C	ENSP00000512300.1:n.*1553G>C
ENST00000695974.1:c.3012G>C	ENSP00000512301.1:p.Gln1004His
ENST00000695975.1:c.*1316G>C	ENSP00000512302.1:n.*1316G>C
ENST00000695976.1:c.3000G>C	ENSP00000512303.1:p.Gln1000His
ENST00000695981.1:c.3189G>C	ENSP00000512306.1:p.Gln1063His
ENST00000695984.1:c.1197G>C	ENSP00000512309.1:p.Gln399His
ENST00000695986.1:c.*2840G>C	ENSP00000512311.1:n.*2840G>C
ENST00000696026.1:c.*1471G>C	ENSP00000512335.1:n.*1471G>C
ENST00000696027.1:c.3183G>C	ENSP00000512336.1:p.Gln1061His
ENST00000696028.1:c.3117G>C	ENSP00000512337.1:p.Gln1039His
ENST00000696029.1:c.3183G>C	ENSP00000512338.1:p.Gln1061His
ENST00000696031.1:c.*2707G>C	ENSP00000512340.1:n.*2707G>C
ENST00000696032.1:c.3189G>C	ENSP00000512341.1:p.Gln1063His
ENST00000696033.1:c.1160-36290G>C	ENSP00000512342.1:n.1160-36290G>C
ENST00000367429.9:c.3189G>C MANE Select	ENSP00000356399.4:p.Gln1063His
ENST00000367429.8:c.3189G>C	ENSP00000356399.4:p.Gln1063His
ENST00000466229.5:n.6287G>C
NM_000186.3:c.3189G>C , LRG_47t1:c.3189G>C	NP_000177.2:p.Gln1063His
XR_001737134.2:n.3375G>C
NM_000186.4:c.3189G>C MANE Select	NP_000177.2:p.Gln1063His