Canonical Allele Identifier: CA363409399

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918537G>C (hg19) ; chr6:g.31950760G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950760G>C , CM000668.2:g.31950760G>C	GRCh38
NC_000006.11:g.31918537G>C , CM000668.1:g.31918537G>C	GRCh37
NC_000006.10:g.32026516G>C	NCBI36
NG_008191.1:g.9817G>C , LRG_136:g.9817G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2158G>C
ENST00000483004.2:c.1550G>C	ENSP00000419887.2:p.Gly517Ala
ENST00000698628.1:c.1624+357G>C	ENSP00000513848.1:n.1624+357G>C
ENST00000698629.1:n.1943G>C
ENST00000698630.1:n.2482G>C
ENST00000698631.1:n.2483G>C
ENST00000698632.1:n.3277G>C
ENST00000698633.1:n.3167G>C
ENST00000698636.1:n.1988G>C
ENST00000425368.7:c.1766G>C MANE Select	ENSP00000416561.2:p.Gly589Ala
ENST00000425368.6:c.1766G>C	ENSP00000416561.2:p.Gly589Ala
ENST00000456570.5:c.3272G>C	ENSP00000410815.1:p.Gly1091Ala
ENST00000467360.1:n.892G>C
ENST00000477310.1:c.2819G>C	ENSP00000418996.1:p.Gly940Ala
ENST00000483004.1:c.388G>C
NM_001710.5:c.1766G>C , LRG_136t1:c.1766G>C	NP_001701.2:p.Gly589Ala
NM_001710.6:c.1766G>C MANE Select	NP_001701.2:p.Gly589Ala