Canonical Allele Identifier: CA422662986

Gene: CFH

Linked Data

• gnomAD v4: 1-196743624-C-T
• MyVariant Identifiers: chr1:g.196712754C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743624C>T , CM000663.2:g.196743624C>T	GRCh38
NC_000001.10:g.196712754C>T , CM000663.1:g.196712754C>T	GRCh37
NC_000001.9:g.194979377C>T	NCBI36
NG_007259.1:g.96614C>T , LRG_47:g.96614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4334C>T
ENST00000695970.1:c.3132C>T	ENSP00000512297.1:p.Cys1044=
ENST00000695971.1:c.3285C>T	ENSP00000512298.1:p.Cys1095=
ENST00000695972.1:c.*383C>T	ENSP00000512299.1:n.*383C>T
ENST00000695973.1:c.*1670C>T	ENSP00000512300.1:n.*1670C>T
ENST00000695974.1:c.3129C>T	ENSP00000512301.1:p.Cys1043=
ENST00000695975.1:c.*1433C>T	ENSP00000512302.1:n.*1433C>T
ENST00000695976.1:c.3117C>T	ENSP00000512303.1:p.Cys1039=
ENST00000695981.1:c.3306C>T	ENSP00000512306.1:p.Cys1102=
ENST00000695984.1:c.1314C>T	ENSP00000512309.1:p.Cys438=
ENST00000695986.1:c.*2957C>T	ENSP00000512311.1:n.*2957C>T
ENST00000696026.1:c.*1588C>T	ENSP00000512335.1:n.*1588C>T
ENST00000696027.1:c.3300C>T	ENSP00000512336.1:p.Cys1100=
ENST00000696028.1:c.3234C>T	ENSP00000512337.1:p.Cys1078=
ENST00000696029.1:c.3300C>T	ENSP00000512338.1:p.Cys1100=
ENST00000696031.1:c.*2824C>T	ENSP00000512340.1:n.*2824C>T
ENST00000696032.1:c.3306C>T	ENSP00000512341.1:p.Cys1102=
ENST00000696033.1:c.1160-36173C>T	ENSP00000512342.1:n.1160-36173C>T
ENST00000367429.9:c.3306C>T MANE Select	ENSP00000356399.4:p.Cys1102=
ENST00000367429.8:c.3306C>T	ENSP00000356399.4:p.Cys1102=
ENST00000466229.5:n.6404C>T
NM_000186.3:c.3306C>T , LRG_47t1:c.3306C>T	NP_000177.2:p.Cys1102=
XR_001737134.2:n.3492C>T
NM_000186.4:c.3306C>T MANE Select	NP_000177.2:p.Cys1102=