Canonical Allele Identifier: CA363409024

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918482G>C (hg19) ; chr6:g.31950705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950705G>C , CM000668.2:g.31950705G>C	GRCh38
NC_000006.11:g.31918482G>C , CM000668.1:g.31918482G>C	GRCh37
NC_000006.10:g.32026461G>C	NCBI36
NG_008191.1:g.9762G>C , LRG_136:g.9762G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2103G>C
ENST00000483004.2:c.1495G>C	ENSP00000419887.2:p.Glu499Gln
ENST00000698628.1:c.1624+302G>C	ENSP00000513848.1:n.1624+302G>C
ENST00000698629.1:n.1888G>C
ENST00000698630.1:n.2427G>C
ENST00000698631.1:n.2428G>C
ENST00000698632.1:n.3222G>C
ENST00000698633.1:n.3112G>C
ENST00000698636.1:n.1933G>C
ENST00000425368.7:c.1711G>C MANE Select	ENSP00000416561.2:p.Glu571Gln
ENST00000425368.6:c.1711G>C	ENSP00000416561.2:p.Glu571Gln
ENST00000456570.5:c.3217G>C	ENSP00000410815.1:p.Glu1073Gln
ENST00000467360.1:n.837G>C
ENST00000477310.1:c.2764G>C	ENSP00000418996.1:p.Glu922Gln
ENST00000483004.1:c.333G>C
NM_001710.5:c.1711G>C , LRG_136t1:c.1711G>C	NP_001701.2:p.Glu571Gln
NM_001710.6:c.1711G>C MANE Select	NP_001701.2:p.Glu571Gln