Canonical Allele Identifier: CA343984115

Gene: CFH

Linked Data

• ClinVar Variation Id: 2236782
• ClinVar RCV Id: RCV002718815
• MyVariant Identifiers: chr1:g.196712752T>A (hg19) ; chr1:g.196743622T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743622T>A , CM000663.2:g.196743622T>A	GRCh38
NC_000001.10:g.196712752T>A , CM000663.1:g.196712752T>A	GRCh37
NC_000001.9:g.194979375T>A	NCBI36
NG_007259.1:g.96612T>A , LRG_47:g.96612T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4332T>A
ENST00000695970.1:c.3130T>A	ENSP00000512297.1:p.Cys1044Ser
ENST00000695971.1:c.3283T>A	ENSP00000512298.1:p.Cys1095Ser
ENST00000695972.1:c.*381T>A	ENSP00000512299.1:n.*381T>A
ENST00000695973.1:c.*1668T>A	ENSP00000512300.1:n.*1668T>A
ENST00000695974.1:c.3127T>A	ENSP00000512301.1:p.Cys1043Ser
ENST00000695975.1:c.*1431T>A	ENSP00000512302.1:n.*1431T>A
ENST00000695976.1:c.3115T>A	ENSP00000512303.1:p.Cys1039Ser
ENST00000695981.1:c.3304T>A	ENSP00000512306.1:p.Cys1102Ser
ENST00000695984.1:c.1312T>A	ENSP00000512309.1:p.Cys438Ser
ENST00000695986.1:c.*2955T>A	ENSP00000512311.1:n.*2955T>A
ENST00000696026.1:c.*1586T>A	ENSP00000512335.1:n.*1586T>A
ENST00000696027.1:c.3298T>A	ENSP00000512336.1:p.Cys1100Ser
ENST00000696028.1:c.3232T>A	ENSP00000512337.1:p.Cys1078Ser
ENST00000696029.1:c.3298T>A	ENSP00000512338.1:p.Cys1100Ser
ENST00000696031.1:c.*2822T>A	ENSP00000512340.1:n.*2822T>A
ENST00000696032.1:c.3304T>A	ENSP00000512341.1:p.Cys1102Ser
ENST00000696033.1:c.1160-36175T>A	ENSP00000512342.1:n.1160-36175T>A
ENST00000367429.9:c.3304T>A MANE Select	ENSP00000356399.4:p.Cys1102Ser
ENST00000367429.8:c.3304T>A	ENSP00000356399.4:p.Cys1102Ser
ENST00000466229.5:n.6402T>A
NM_000186.3:c.3304T>A , LRG_47t1:c.3304T>A	NP_000177.2:p.Cys1102Ser
XR_001737134.2:n.3490T>A
NM_000186.4:c.3304T>A MANE Select	NP_000177.2:p.Cys1102Ser