Canonical Allele Identifier: CA343983623

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712675A>G (hg19) ; chr1:g.196743545A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743545A>G , CM000663.2:g.196743545A>G	GRCh38
NC_000001.10:g.196712675A>G , CM000663.1:g.196712675A>G	GRCh37
NC_000001.9:g.194979298A>G	NCBI36
NG_007259.1:g.96535A>G , LRG_47:g.96535A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4255A>G
ENST00000695970.1:c.3053A>G	ENSP00000512297.1:p.Gln1018Arg
ENST00000695971.1:c.3206A>G	ENSP00000512298.1:p.Gln1069Arg
ENST00000695972.1:c.*304A>G	ENSP00000512299.1:n.*304A>G
ENST00000695973.1:c.*1591A>G	ENSP00000512300.1:n.*1591A>G
ENST00000695974.1:c.3050A>G	ENSP00000512301.1:p.Gln1017Arg
ENST00000695975.1:c.*1354A>G	ENSP00000512302.1:n.*1354A>G
ENST00000695976.1:c.3038A>G	ENSP00000512303.1:p.Gln1013Arg
ENST00000695981.1:c.3227A>G	ENSP00000512306.1:p.Gln1076Arg
ENST00000695984.1:c.1235A>G	ENSP00000512309.1:p.Gln412Arg
ENST00000695986.1:c.*2878A>G	ENSP00000512311.1:n.*2878A>G
ENST00000696026.1:c.*1509A>G	ENSP00000512335.1:n.*1509A>G
ENST00000696027.1:c.3221A>G	ENSP00000512336.1:p.Gln1074Arg
ENST00000696028.1:c.3155A>G	ENSP00000512337.1:p.Gln1052Arg
ENST00000696029.1:c.3221A>G	ENSP00000512338.1:p.Gln1074Arg
ENST00000696031.1:c.*2745A>G	ENSP00000512340.1:n.*2745A>G
ENST00000696032.1:c.3227A>G	ENSP00000512341.1:p.Gln1076Arg
ENST00000696033.1:c.1160-36252A>G	ENSP00000512342.1:n.1160-36252A>G
ENST00000367429.9:c.3227A>G MANE Select	ENSP00000356399.4:p.Gln1076Arg
ENST00000367429.8:c.3227A>G	ENSP00000356399.4:p.Gln1076Arg
ENST00000466229.5:n.6325A>G
NM_000186.3:c.3227A>G , LRG_47t1:c.3227A>G	NP_000177.2:p.Gln1076Arg
XR_001737134.2:n.3413A>G
NM_000186.4:c.3227A>G MANE Select	NP_000177.2:p.Gln1076Arg