Canonical Allele Identifier: CA1619379429
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951715A= , CM000668.2:g.31951715A= GRCh38
NC_000006.11:g.31919492A= , CM000668.1:g.31919492A= GRCh37
NC_000006.10:g.32027471A= NCBI36
NG_008191.1:g.10772A= , LRG_136:g.10772A=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2573+111A=
ENST00000483004.2:c.1923+111A= ENSP00000419887.2:n.1923+111A=
ENST00000698628.1:c.1908+111A= ENSP00000513848.1:n.1908+111A=
ENST00000698629.1:n.2358+111A=
ENST00000698630.1:n.2855+111A=
ENST00000698631.1:n.2856+111A=
ENST00000698632.1:n.3944+111A=
ENST00000698633.1:n.3834+111A=
ENST00000425368.7:c.2139+111A= MANE Select ENSP00000416561.2:n.2139+111A=
ENST00000425368.6:c.2139+111A= ENSP00000416561.2:n.2139+111A=
ENST00000456570.5:c.3645+111A= ENSP00000410815.1:n.3645+111A=
ENST00000477310.1:c.3192+111A= ENSP00000418996.1:n.3192+111A=
ENST00000482312.1:n.554+111A=
ENST00000483004.1:c.761+111A=
ENST00000498317.1:c.220A=
NM_001710.5:c.2139+111A= , LRG_136t1:c.2139+111A= NP_001701.2:n.2139+111A=
NM_001710.6:c.2139+111A= MANE Select NP_001701.2:n.2139+111A=