Canonical Allele Identifier: CA2573131414

Gene: CFH

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196737480dup , CM000663.2:g.196737480dup	GRCh38
NC_000001.10:g.196706610dup , CM000663.1:g.196706610dup	GRCh37
NC_000001.9:g.194973233dup	NCBI36
NG_007259.1:g.90470dup , LRG_47:g.90470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2868dup
ENST00000695969.1:c.2602dup	ENSP00000512296.1:p.Ile868AsnfsTer15
ENST00000695970.1:c.2602dup	ENSP00000512297.1:p.Ile868AsnfsTer15
ENST00000695971.1:c.2581dup	ENSP00000512298.1:p.Ile861AsnfsTer15
ENST00000695972.1:c.2233-3184dup	ENSP00000512299.1:n.2233-3184dup
ENST00000695973.1:c.*966dup	ENSP00000512300.1:n.*966dup
ENST00000695974.1:c.2425dup	ENSP00000512301.1:p.Ile809AsnfsTer15
ENST00000695975.1:c.*729dup	ENSP00000512302.1:n.*729dup
ENST00000695976.1:c.2413dup	ENSP00000512303.1:p.Ile805AsnfsTer15
ENST00000695981.1:c.2602dup	ENSP00000512306.1:p.Ile868AsnfsTer15
ENST00000695983.1:c.2602dup	ENSP00000512308.1:p.Ile868AsnfsTer15
ENST00000695984.1:c.610dup	ENSP00000512309.1:p.Ile204AsnfsTer15
ENST00000695986.1:c.*2253dup	ENSP00000512311.1:n.*2253dup
ENST00000696025.1:n.2686dup
ENST00000696026.1:c.*884dup	ENSP00000512335.1:n.*884dup
ENST00000696027.1:c.2596dup	ENSP00000512336.1:p.Ile866AsnfsTer15
ENST00000696028.1:c.2602dup	ENSP00000512337.1:p.Ile868AsnfsTer15
ENST00000696029.1:c.2602dup	ENSP00000512338.1:p.Ile868AsnfsTer15
ENST00000696031.1:c.*2120dup	ENSP00000512340.1:n.*2120dup
ENST00000696032.1:c.2602dup	ENSP00000512341.1:p.Ile868AsnfsTer15
ENST00000696033.1:c.1160-42317dup	ENSP00000512342.1:n.1160-42317dup
ENST00000367429.9:c.2602dup MANE Select	ENSP00000356399.4:p.Ile868AsnfsTer15
ENST00000367429.8:c.2602dup	ENSP00000356399.4:p.Ile868AsnfsTer15
ENST00000466229.5:n.4618dup
ENST00000470918.1:n.105dup
NM_000186.3:c.2602dup , LRG_47t1:c.2602dup	NP_000177.2:p.Ile868AsnfsTer15
XR_001737134.2:n.2788dup
NM_000186.4:c.2602dup MANE Select	NP_000177.2:p.Ile868AsnfsTer15