Canonical Allele Identifier: CA363409200

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918512A>T (hg19) ; chr6:g.31950735A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950735A>T , CM000668.2:g.31950735A>T	GRCh38
NC_000006.11:g.31918512A>T , CM000668.1:g.31918512A>T	GRCh37
NC_000006.10:g.32026491A>T	NCBI36
NG_008191.1:g.9792A>T , LRG_136:g.9792A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2133A>T
ENST00000483004.2:c.1525A>T	ENSP00000419887.2:p.Lys509Ter
ENST00000698628.1:c.1624+332A>T	ENSP00000513848.1:n.1624+332A>T
ENST00000698629.1:n.1918A>T
ENST00000698630.1:n.2457A>T
ENST00000698631.1:n.2458A>T
ENST00000698632.1:n.3252A>T
ENST00000698633.1:n.3142A>T
ENST00000698636.1:n.1963A>T
ENST00000425368.7:c.1741A>T MANE Select	ENSP00000416561.2:p.Lys581Ter
ENST00000425368.6:c.1741A>T	ENSP00000416561.2:p.Lys581Ter
ENST00000456570.5:c.3247A>T	ENSP00000410815.1:p.Lys1083Ter
ENST00000467360.1:n.867A>T
ENST00000477310.1:c.2794A>T	ENSP00000418996.1:p.Lys932Ter
ENST00000483004.1:c.363A>T
NM_001710.5:c.1741A>T , LRG_136t1:c.1741A>T	NP_001701.2:p.Lys581Ter
NM_001710.6:c.1741A>T MANE Select	NP_001701.2:p.Lys581Ter