Canonical Allele Identifier: CA3728306

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31949514C>T , CM000668.2:g.31949514C>T	GRCh38
NC_000006.11:g.31917291C>T , CM000668.1:g.31917291C>T	GRCh37
NC_000006.10:g.32025270C>T	NCBI36
NG_008191.1:g.8571C>T , LRG_136:g.8571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1542C>T
ENST00000483004.2:c.1365C>T	ENSP00000419887.2:p.Val455=
ENST00000497841.6:c.1365C>T	ENSP00000513847.1:p.Val455=
ENST00000698628.1:c.1365C>T	ENSP00000513848.1:p.Val455=
ENST00000698629.1:n.1542C>T
ENST00000698630.1:n.2081C>T
ENST00000698631.1:n.2082C>T
ENST00000698632.1:n.2661C>T
ENST00000698633.1:n.2551C>T
ENST00000698636.1:n.1587C>T
ENST00000425368.7:c.1365C>T MANE Select	ENSP00000416561.2:p.Val455=
ENST00000425368.6:c.1365C>T	ENSP00000416561.2:p.Val455=
ENST00000452035.6:n.1365C>T
ENST00000456570.5:c.2871C>T	ENSP00000410815.1:p.Val957=
ENST00000461483.5:n.1240C>T
ENST00000465750.5:n.484C>T
ENST00000467150.1:n.442C>T
ENST00000477310.1:c.2418C>T	ENSP00000418996.1:p.Val806=
ENST00000483004.1:c.203C>T
ENST00000497841.5:n.652C>T
NM_001710.5:c.1365C>T , LRG_136t1:c.1365C>T	NP_001701.2:p.Val455=
NM_001710.6:c.1365C>T MANE Select	NP_001701.2:p.Val455=