Canonical Allele Identifier: CA1305684

Gene: CFH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196736973G>A , CM000663.2:g.196736973G>A	GRCh38
NC_000001.10:g.196706103G>A , CM000663.1:g.196706103G>A	GRCh37
NC_000001.9:g.194972726G>A	NCBI36
NG_007259.1:g.89963G>A , LRG_47:g.89963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2829G>A
ENST00000695969.1:c.2563G>A	ENSP00000512296.1:p.Asp855Asn
ENST00000695970.1:c.2563G>A	ENSP00000512297.1:p.Asp855Asn
ENST00000695971.1:c.2542G>A	ENSP00000512298.1:p.Asp848Asn
ENST00000695972.1:c.2233-3691G>A	ENSP00000512299.1:n.2233-3691G>A
ENST00000695973.1:c.*927G>A	ENSP00000512300.1:n.*927G>A
ENST00000695974.1:c.2386G>A	ENSP00000512301.1:p.Asp796Asn
ENST00000695975.1:c.*690G>A	ENSP00000512302.1:n.*690G>A
ENST00000695976.1:c.2374G>A	ENSP00000512303.1:p.Asp792Asn
ENST00000695981.1:c.2563G>A	ENSP00000512306.1:p.Asp855Asn
ENST00000695983.1:c.2563G>A	ENSP00000512308.1:p.Asp855Asn
ENST00000695984.1:c.571G>A	ENSP00000512309.1:p.Asp191Asn
ENST00000695986.1:c.*2214G>A	ENSP00000512311.1:n.*2214G>A
ENST00000696025.1:n.2647G>A
ENST00000696026.1:c.*845G>A	ENSP00000512335.1:n.*845G>A
ENST00000696027.1:c.2557G>A	ENSP00000512336.1:p.Asp853Asn
ENST00000696028.1:c.2563G>A	ENSP00000512337.1:p.Asp855Asn
ENST00000696029.1:c.2563G>A	ENSP00000512338.1:p.Asp855Asn
ENST00000696031.1:c.*2081G>A	ENSP00000512340.1:n.*2081G>A
ENST00000696032.1:c.2563G>A	ENSP00000512341.1:p.Asp855Asn
ENST00000696033.1:c.1160-42824G>A	ENSP00000512342.1:n.1160-42824G>A
ENST00000367429.9:c.2563G>A MANE Select	ENSP00000356399.4:p.Asp855Asn
ENST00000367429.8:c.2563G>A	ENSP00000356399.4:p.Asp855Asn
ENST00000466229.5:n.4579G>A
ENST00000470918.1:n.66G>A
NM_000186.3:c.2563G>A , LRG_47t1:c.2563G>A	NP_000177.2:p.Asp855Asn
XR_001737134.2:n.2749G>A
NM_000186.4:c.2563G>A MANE Select	NP_000177.2:p.Asp855Asn