Canonical Allele Identifier: CA422662873

Gene: CFH

Linked Data

• dbSNP Id: rs1476117804
• gnomAD v2: 1-196712625-A-C
• gnomAD v4: 1-196743495-A-C
• MyVariant Identifiers: chr1:g.196712625A>C (hg19) ; chr1:g.196743495A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743495A>C , CM000663.2:g.196743495A>C	GRCh38
NC_000001.10:g.196712625A>C , CM000663.1:g.196712625A>C	GRCh37
NC_000001.9:g.194979248A>C	NCBI36
NG_007259.1:g.96485A>C , LRG_47:g.96485A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4205A>C
ENST00000695970.1:c.3003A>C	ENSP00000512297.1:p.Ile1001=
ENST00000695971.1:c.3156A>C	ENSP00000512298.1:p.Ile1052=
ENST00000695972.1:c.*254A>C	ENSP00000512299.1:n.*254A>C
ENST00000695973.1:c.*1541A>C	ENSP00000512300.1:n.*1541A>C
ENST00000695974.1:c.3000A>C	ENSP00000512301.1:p.Ile1000=
ENST00000695975.1:c.*1304A>C	ENSP00000512302.1:n.*1304A>C
ENST00000695976.1:c.2988A>C	ENSP00000512303.1:p.Ile996=
ENST00000695981.1:c.3177A>C	ENSP00000512306.1:p.Ile1059=
ENST00000695984.1:c.1185A>C	ENSP00000512309.1:p.Ile395=
ENST00000695986.1:c.*2828A>C	ENSP00000512311.1:n.*2828A>C
ENST00000696026.1:c.*1459A>C	ENSP00000512335.1:n.*1459A>C
ENST00000696027.1:c.3171A>C	ENSP00000512336.1:p.Ile1057=
ENST00000696028.1:c.3105A>C	ENSP00000512337.1:p.Ile1035=
ENST00000696029.1:c.3171A>C	ENSP00000512338.1:p.Ile1057=
ENST00000696031.1:c.*2695A>C	ENSP00000512340.1:n.*2695A>C
ENST00000696032.1:c.3177A>C	ENSP00000512341.1:p.Ile1059=
ENST00000696033.1:c.1160-36302A>C	ENSP00000512342.1:n.1160-36302A>C
ENST00000367429.9:c.3177A>C MANE Select	ENSP00000356399.4:p.Ile1059=
ENST00000367429.8:c.3177A>C	ENSP00000356399.4:p.Ile1059=
ENST00000466229.5:n.6275A>C
NM_000186.3:c.3177A>C , LRG_47t1:c.3177A>C	NP_000177.2:p.Ile1059=
XR_001737134.2:n.3363A>C
NM_000186.4:c.3177A>C MANE Select	NP_000177.2:p.Ile1059=