Canonical Allele Identifier: CA136897733

Gene: CFB

Linked Data

• dbSNP Id: rs1803304
• MyVariant Identifiers: chr6:g.31918442C>T (hg19) ; chr6:g.31950665C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950665C>T , CM000668.2:g.31950665C>T	GRCh38
NC_000006.11:g.31918442C>T , CM000668.1:g.31918442C>T	GRCh37
NC_000006.10:g.32026421C>T	NCBI36
NG_008191.1:g.9722C>T , LRG_136:g.9722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2063C>T
ENST00000483004.2:c.1455C>T	ENSP00000419887.2:p.Pro485=
ENST00000698628.1:c.1624+262C>T	ENSP00000513848.1:n.1624+262C>T
ENST00000698629.1:n.1848C>T
ENST00000698630.1:n.2387C>T
ENST00000698631.1:n.2388C>T
ENST00000698632.1:n.3182C>T
ENST00000698633.1:n.3072C>T
ENST00000698636.1:n.1893C>T
ENST00000425368.7:c.1671C>T MANE Select	ENSP00000416561.2:p.Pro557=
ENST00000425368.6:c.1671C>T	ENSP00000416561.2:p.Pro557=
ENST00000456570.5:c.3177C>T	ENSP00000410815.1:p.Pro1059=
ENST00000467360.1:n.797C>T
ENST00000477310.1:c.2724C>T	ENSP00000418996.1:p.Pro908=
ENST00000483004.1:c.293C>T
NM_001710.5:c.1671C>T , LRG_136t1:c.1671C>T	NP_001701.2:p.Pro557=
NM_001710.6:c.1671C>T MANE Select	NP_001701.2:p.Pro557=