Canonical Allele Identifier: CA145583

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31947950C>T , CM000668.2:g.31947950C>T	GRCh38
NC_000006.11:g.31915727C>T , CM000668.1:g.31915727C>T	GRCh37
NC_000006.10:g.32023706C>T	NCBI36
NG_008191.1:g.7007C>T , LRG_136:g.7007C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001710.6:c.766C>T MANE Select	NP_001701.2:p.Gln256Ter
ENST00000425368.7:c.766C>T MANE Select	ENSP00000416561.2:p.Gln256Ter
NM_001710.5:c.766C>T , LRG_136t1:c.766C>T	NP_001701.2:p.Gln256Ter
ENST00000425368.6:c.766C>T	ENSP00000416561.2:p.Gln256Ter
ENST00000452035.6:n.766C>T
ENST00000452035.7:n.943C>T
ENST00000456570.5:c.2272C>T	ENSP00000410815.1:p.Gln758Ter
ENST00000460718.5:c.*392C>T	ENSP00000417793.1:n.*392C>T
ENST00000461483.5:n.349C>T
ENST00000477310.1:c.1819C>T	ENSP00000418996.1:p.Gln607Ter
ENST00000483004.2:c.766C>T	ENSP00000419887.2:p.Gln256Ter
ENST00000497841.5:n.53C>T
ENST00000497841.6:c.766C>T	ENSP00000513847.1:p.Gln256Ter
ENST00000698628.1:c.766C>T	ENSP00000513848.1:p.Gln256Ter
ENST00000698629.1:n.943C>T
ENST00000698630.1:n.1482C>T
ENST00000698631.1:n.1322C>T
ENST00000698632.1:n.1770C>T
ENST00000698633.1:n.1585C>T
ENST00000698636.1:n.988C>T