Canonical Allele Identifier: CA2573974076

Gene: CFH

Linked Data

• gnomAD v4: 1-196743457-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743459dup , CM000663.2:g.196743459dup	GRCh38
NC_000001.10:g.196712589dup , CM000663.1:g.196712589dup	GRCh37
NC_000001.9:g.194979212dup	NCBI36
NG_007259.1:g.96449dup , LRG_47:g.96449dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4169dup
ENST00000695970.1:c.2967dup	ENSP00000512297.1:p.Cys990LeufsTer19
ENST00000695971.1:c.3120dup	ENSP00000512298.1:p.Cys1041LeufsTer19
ENST00000695972.1:c.*218dup	ENSP00000512299.1:n.*218dup
ENST00000695973.1:c.*1505dup	ENSP00000512300.1:n.*1505dup
ENST00000695974.1:c.2964dup	ENSP00000512301.1:p.Cys989LeufsTer19
ENST00000695975.1:c.*1268dup	ENSP00000512302.1:n.*1268dup
ENST00000695976.1:c.2952dup	ENSP00000512303.1:p.Cys985LeufsTer19
ENST00000695981.1:c.3141dup	ENSP00000512306.1:p.Cys1048LeufsTer19
ENST00000695984.1:c.1149dup	ENSP00000512309.1:p.Cys384LeufsTer19
ENST00000695986.1:c.*2792dup	ENSP00000512311.1:n.*2792dup
ENST00000696026.1:c.*1423dup	ENSP00000512335.1:n.*1423dup
ENST00000696027.1:c.3135dup	ENSP00000512336.1:p.Cys1046LeufsTer19
ENST00000696028.1:c.3069dup	ENSP00000512337.1:p.Cys1024LeufsTer19
ENST00000696029.1:c.3135dup	ENSP00000512338.1:p.Cys1046LeufsTer19
ENST00000696031.1:c.*2659dup	ENSP00000512340.1:n.*2659dup
ENST00000696032.1:c.3141dup	ENSP00000512341.1:p.Cys1048LeufsTer19
ENST00000696033.1:c.1160-36338dup	ENSP00000512342.1:n.1160-36338dup
ENST00000367429.9:c.3141dup MANE Select	ENSP00000356399.4:p.Cys1048LeufsTer19
ENST00000367429.8:c.3141dup	ENSP00000356399.4:p.Cys1048LeufsTer19
ENST00000466229.5:n.6239dup
NM_000186.3:c.3141dup , LRG_47t1:c.3141dup	NP_000177.2:p.Cys1048LeufsTer19
XR_001737134.2:n.3327dup
NM_000186.4:c.3141dup MANE Select	NP_000177.2:p.Cys1048LeufsTer19