Canonical Allele Identifier: CA363388262

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914218A>T (hg19) ; chr6:g.31946441A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946441A>T , CM000668.2:g.31946441A>T	GRCh38
NC_000006.11:g.31914218A>T , CM000668.1:g.31914218A>T	GRCh37
NC_000006.10:g.32022197A>T	NCBI36
NG_008191.1:g.5498A>T , LRG_136:g.5498A>T
NG_011730.1:g.23953A>T , LRG_26:g.23953A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.310A>T
ENST00000483004.2:c.133A>T	ENSP00000419887.2:p.Lys45Ter
ENST00000497841.6:c.133A>T	ENSP00000513847.1:p.Lys45Ter
ENST00000698628.1:c.133A>T	ENSP00000513848.1:p.Lys45Ter
ENST00000698629.1:n.310A>T
ENST00000698630.1:n.294A>T
ENST00000698631.1:n.289A>T
ENST00000698632.1:n.261A>T
ENST00000698633.1:n.231A>T
ENST00000698636.1:n.355A>T
ENST00000425368.7:c.133A>T MANE Select	ENSP00000416561.2:p.Lys45Ter
ENST00000425368.6:c.133A>T	ENSP00000416561.2:p.Lys45Ter
ENST00000452035.6:n.133A>T
ENST00000456570.5:c.1639A>T	ENSP00000410815.1:p.Lys547Ter
ENST00000460718.5:c.65-45A>T	ENSP00000417793.1:n.65-45A>T
ENST00000472581.1:n.380A>T
ENST00000475617.5:c.133A>T	ENSP00000420090.1:p.Lys45Ter
ENST00000477310.1:c.1352-566A>T	ENSP00000418996.1:n.1352-566A>T
NM_001710.5:c.133A>T , LRG_136t1:c.133A>T	NP_001701.2:p.Lys45Ter
NM_001710.6:c.133A>T MANE Select	NP_001701.2:p.Lys45Ter