Canonical Allele Identifier: CA422663648

Gene: CFH

Linked Data

• gnomAD v4: 1-196715600-T-C
• MyVariant Identifiers: chr1:g.196684730T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715600T>C , CM000663.2:g.196715600T>C	GRCh38
NC_000001.10:g.196684730T>C , CM000663.1:g.196684730T>C	GRCh37
NC_000001.9:g.194951353T>C	NCBI36
NG_007259.1:g.68590T>C , LRG_47:g.68590T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1793T>C
ENST00000695969.1:c.1527T>C	ENSP00000512296.1:p.Cys509=
ENST00000695970.1:c.1527T>C	ENSP00000512297.1:p.Cys509=
ENST00000695971.1:c.1506T>C	ENSP00000512298.1:p.Cys502=
ENST00000695972.1:c.1527T>C	ENSP00000512299.1:p.Cys509=
ENST00000695973.1:c.1527T>C	ENSP00000512300.1:p.Cys509=
ENST00000695974.1:c.1527T>C	ENSP00000512301.1:p.Cys509=
ENST00000695975.1:c.1527T>C	ENSP00000512302.1:p.Cys509=
ENST00000695976.1:c.1338T>C	ENSP00000512303.1:p.Cys446=
ENST00000695981.1:c.1527T>C	ENSP00000512306.1:p.Cys509=
ENST00000695983.1:c.1527T>C	ENSP00000512308.1:p.Cys509=
ENST00000695984.1:c.245-12746T>C	ENSP00000512309.1:n.245-12746T>C
ENST00000695986.1:c.*1178T>C	ENSP00000512311.1:n.*1178T>C
ENST00000696024.1:n.1611T>C
ENST00000696025.1:n.1611T>C
ENST00000696026.1:c.1527T>C	ENSP00000512335.1:p.Cys509=
ENST00000696027.1:c.1527T>C	ENSP00000512336.1:p.Cys509=
ENST00000696028.1:c.1527T>C	ENSP00000512337.1:p.Cys509=
ENST00000696029.1:c.1527T>C	ENSP00000512338.1:p.Cys509=
ENST00000696031.1:c.*1045T>C	ENSP00000512340.1:n.*1045T>C
ENST00000696032.1:c.1527T>C	ENSP00000512341.1:p.Cys509=
ENST00000696033.1:c.1159+25986T>C	ENSP00000512342.1:n.1159+25986T>C
ENST00000367429.9:c.1527T>C MANE Select	ENSP00000356399.4:p.Cys509=
ENST00000367429.8:c.1527T>C	ENSP00000356399.4:p.Cys509=
ENST00000466229.5:n.3543T>C
NM_000186.3:c.1527T>C , LRG_47t1:c.1527T>C	NP_000177.2:p.Cys509=
XR_001737134.2:n.1612T>C
NM_000186.4:c.1527T>C MANE Select	NP_000177.2:p.Cys509=