Canonical Allele Identifier: CA2850447147

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747112_196747314dup , CM000663.2:g.196747112_196747314dup	GRCh38
NC_000001.10:g.196716242_196716444dup , CM000663.1:g.196716242_196716444dup	GRCh37
NC_000001.9:g.194982865_194983067dup	NCBI36
NG_007259.1:g.100102_100304dup , LRG_47:g.100102_100304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4523_4725dup
ENST00000695970.1:c.3321_*1dup
ENST00000695971.1:c.3474_*1dup
ENST00000695972.1:c.*572_*774dup
ENST00000695973.1:c.*1859_*2061dup
ENST00000695974.1:c.3318_*1dup
ENST00000695975.1:c.*1622_*1824dup
ENST00000695976.1:c.3306_*1dup
ENST00000695981.1:c.3495_3580+117dup
ENST00000695984.1:c.1503_*1dup
ENST00000695986.1:c.*3146_*3348dup
ENST00000695990.1:n.529_731dup
ENST00000696026.1:c.*1777_*1979dup
ENST00000696027.1:c.3489_*1dup
ENST00000696028.1:c.3423_*1dup
ENST00000696029.1:c.3489_*1dup
ENST00000696031.1:c.*3013_*3215dup
ENST00000696032.1:c.3495_3580+117dup
ENST00000696033.1:c.1160-32685_1160-32483dup	ENSP00000512342.1:n.1160-32685_1160-32483dup
ENST00000367429.9:c.3495_*1dup
ENST00000367429.8:c.3495_*1dup
ENST00000466229.5:n.6593_6795dup
NM_000186.3:c.3495_*1dup , LRG_47t1:c.3495_*1dup
XR_001737134.2:n.3681_3883dup
NM_000186.4:c.3495_*1dup