Canonical Allele Identifier: CA363408558

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918398G>C (hg19) ; chr6:g.31950621G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950621G>C , CM000668.2:g.31950621G>C	GRCh38
NC_000006.11:g.31918398G>C , CM000668.1:g.31918398G>C	GRCh37
NC_000006.10:g.32026377G>C	NCBI36
NG_008191.1:g.9678G>C , LRG_136:g.9678G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2019G>C
ENST00000483004.2:c.1411G>C	ENSP00000419887.2:p.Gly471Arg
ENST00000698628.1:c.1624+218G>C	ENSP00000513848.1:n.1624+218G>C
ENST00000698629.1:n.1804G>C
ENST00000698630.1:n.2343G>C
ENST00000698631.1:n.2344G>C
ENST00000698632.1:n.3138G>C
ENST00000698633.1:n.3028G>C
ENST00000698636.1:n.1849G>C
ENST00000425368.7:c.1627G>C MANE Select	ENSP00000416561.2:p.Gly543Arg
ENST00000425368.6:c.1627G>C	ENSP00000416561.2:p.Gly543Arg
ENST00000452035.6:n.1842G>C
ENST00000456570.5:c.3133G>C	ENSP00000410815.1:p.Gly1045Arg
ENST00000467360.1:n.753G>C
ENST00000477310.1:c.2680G>C	ENSP00000418996.1:p.Gly894Arg
ENST00000483004.1:c.249G>C
NM_001710.5:c.1627G>C , LRG_136t1:c.1627G>C	NP_001701.2:p.Gly543Arg
NM_001710.6:c.1627G>C MANE Select	NP_001701.2:p.Gly543Arg