Canonical Allele Identifier: CA363408954

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918467G>C (hg19) ; chr6:g.31950690G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950690G>C , CM000668.2:g.31950690G>C	GRCh38
NC_000006.11:g.31918467G>C , CM000668.1:g.31918467G>C	GRCh37
NC_000006.10:g.32026446G>C	NCBI36
NG_008191.1:g.9747G>C , LRG_136:g.9747G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2088G>C
ENST00000483004.2:c.1480G>C	ENSP00000419887.2:p.Glu494Gln
ENST00000698628.1:c.1624+287G>C	ENSP00000513848.1:n.1624+287G>C
ENST00000698629.1:n.1873G>C
ENST00000698630.1:n.2412G>C
ENST00000698631.1:n.2413G>C
ENST00000698632.1:n.3207G>C
ENST00000698633.1:n.3097G>C
ENST00000698636.1:n.1918G>C
ENST00000425368.7:c.1696G>C MANE Select	ENSP00000416561.2:p.Glu566Gln
ENST00000425368.6:c.1696G>C	ENSP00000416561.2:p.Glu566Gln
ENST00000456570.5:c.3202G>C	ENSP00000410815.1:p.Glu1068Gln
ENST00000467360.1:n.822G>C
ENST00000477310.1:c.2749G>C	ENSP00000418996.1:p.Glu917Gln
ENST00000483004.1:c.318G>C
NM_001710.5:c.1696G>C , LRG_136t1:c.1696G>C	NP_001701.2:p.Glu566Gln
NM_001710.6:c.1696G>C MANE Select	NP_001701.2:p.Glu566Gln