Canonical Allele Identifier: CA363408916

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918461A>C (hg19) ; chr6:g.31950684A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950684A>C , CM000668.2:g.31950684A>C	GRCh38
NC_000006.11:g.31918461A>C , CM000668.1:g.31918461A>C	GRCh37
NC_000006.10:g.32026440A>C	NCBI36
NG_008191.1:g.9741A>C , LRG_136:g.9741A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2082A>C
ENST00000483004.2:c.1474A>C	ENSP00000419887.2:p.Lys492Gln
ENST00000698628.1:c.1624+281A>C	ENSP00000513848.1:n.1624+281A>C
ENST00000698629.1:n.1867A>C
ENST00000698630.1:n.2406A>C
ENST00000698631.1:n.2407A>C
ENST00000698632.1:n.3201A>C
ENST00000698633.1:n.3091A>C
ENST00000698636.1:n.1912A>C
ENST00000425368.7:c.1690A>C MANE Select	ENSP00000416561.2:p.Lys564Gln
ENST00000425368.6:c.1690A>C	ENSP00000416561.2:p.Lys564Gln
ENST00000456570.5:c.3196A>C	ENSP00000410815.1:p.Lys1066Gln
ENST00000467360.1:n.816A>C
ENST00000477310.1:c.2743A>C	ENSP00000418996.1:p.Lys915Gln
ENST00000483004.1:c.312A>C
NM_001710.5:c.1690A>C , LRG_136t1:c.1690A>C	NP_001701.2:p.Lys564Gln
NM_001710.6:c.1690A>C MANE Select	NP_001701.2:p.Lys564Gln