Canonical Allele Identifier: CA2586964511

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747312_196747315del , CM000663.2:g.196747312_196747315del	GRCh38
NC_000001.10:g.196716442_196716445del , CM000663.1:g.196716442_196716445del	GRCh37
NC_000001.9:g.194983065_194983068del	NCBI36
NG_007259.1:g.100302_100305del , LRG_47:g.100302_100305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4723_4726del
ENST00000695970.1:c.3521_*2del	ENSP00000512297.1:n.[c.3521_*2del;Ter1174PheextTer?]
ENST00000695971.1:c.3674_*2del	ENSP00000512298.1:n.[c.3674_*2del;Ter1225PheextTer?]
ENST00000695972.1:c.*772_*775del	ENSP00000512299.1:n.*772_*775del
ENST00000695973.1:c.*2059_*2062del	ENSP00000512300.1:n.*2059_*2062del
ENST00000695974.1:c.3518_*2del	ENSP00000512301.1:n.[c.3518_*2del;Ter1173PheextTer?]
ENST00000695975.1:c.*1822_*1825del	ENSP00000512302.1:n.*1822_*1825del
ENST00000695976.1:c.3506_*2del	ENSP00000512303.1:n.[c.3506_*2del;Ter1169PheextTer?]
ENST00000695981.1:c.3580+115_3580+118del	ENSP00000512306.1:n.3580+115_3580+118del
ENST00000695984.1:c.1703_*2del	ENSP00000512309.1:n.[c.1703_*2del;Ter568PheextTer?]
ENST00000695986.1:c.*3346_*3349del	ENSP00000512311.1:n.*3346_*3349del
ENST00000695990.1:n.729_732del
ENST00000696026.1:c.*1977_*1980del	ENSP00000512335.1:n.*1977_*1980del
ENST00000696027.1:c.3689_*2del	ENSP00000512336.1:n.[c.3689_*2del;Ter1230PheextTer?]
ENST00000696028.1:c.3623_*2del	ENSP00000512337.1:n.[c.3623_*2del;Ter1208PheextTer?]
ENST00000696029.1:c.3689_*2del	ENSP00000512338.1:n.[c.3689_*2del;Ter1230PheextTer?]
ENST00000696031.1:c.*3213_*3216del	ENSP00000512340.1:n.*3213_*3216del
ENST00000696032.1:c.3580+115_3580+118del	ENSP00000512341.1:n.3580+115_3580+118del
ENST00000696033.1:c.1160-32485_1160-32482del	ENSP00000512342.1:n.1160-32485_1160-32482del
ENST00000367429.9:c.3695_*2del MANE Select	ENSP00000356399.4:n.[c.3695_*2del;Ter1232PheextTer?]
ENST00000367429.8:c.3695_*2del	ENSP00000356399.4:n.[c.3695_*2del;Ter1232PheextTer?]
ENST00000466229.5:n.6793_6796del
NM_000186.3:c.3695_*2del , LRG_47t1:c.3695_*2del	NP_000177.2:n.[c.3695_*2del;Ter1232PheextTer?]
XR_001737134.2:n.3881_3884del
NM_000186.4:c.3695_*2del MANE Select	NP_000177.2:n.[c.3695_*2del;Ter1232PheextTer?]