Canonical Allele Identifier: CA363408924

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918462A>C (hg19) ; chr6:g.31950685A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950685A>C , CM000668.2:g.31950685A>C	GRCh38
NC_000006.11:g.31918462A>C , CM000668.1:g.31918462A>C	GRCh37
NC_000006.10:g.32026441A>C	NCBI36
NG_008191.1:g.9742A>C , LRG_136:g.9742A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2083A>C
ENST00000483004.2:c.1475A>C	ENSP00000419887.2:p.Lys492Thr
ENST00000698628.1:c.1624+282A>C	ENSP00000513848.1:n.1624+282A>C
ENST00000698629.1:n.1868A>C
ENST00000698630.1:n.2407A>C
ENST00000698631.1:n.2408A>C
ENST00000698632.1:n.3202A>C
ENST00000698633.1:n.3092A>C
ENST00000698636.1:n.1913A>C
ENST00000425368.7:c.1691A>C MANE Select	ENSP00000416561.2:p.Lys564Thr
ENST00000425368.6:c.1691A>C	ENSP00000416561.2:p.Lys564Thr
ENST00000456570.5:c.3197A>C	ENSP00000410815.1:p.Lys1066Thr
ENST00000467360.1:n.817A>C
ENST00000477310.1:c.2744A>C	ENSP00000418996.1:p.Lys915Thr
ENST00000483004.1:c.313A>C
NM_001710.5:c.1691A>C , LRG_136t1:c.1691A>C	NP_001701.2:p.Lys564Thr
NM_001710.6:c.1691A>C MANE Select	NP_001701.2:p.Lys564Thr