Canonical Allele Identifier: CA363409822

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918674C>G (hg19) ; chr6:g.31950897C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950897C>G , CM000668.2:g.31950897C>G	GRCh38
NC_000006.11:g.31918674C>G , CM000668.1:g.31918674C>G	GRCh37
NC_000006.10:g.32026653C>G	NCBI36
NG_008191.1:g.9954C>G , LRG_136:g.9954C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2295C>G
ENST00000483004.2:c.1592C>G	ENSP00000419887.2:p.Thr531Arg
ENST00000698628.1:c.1625-247C>G	ENSP00000513848.1:n.1625-247C>G
ENST00000698629.1:n.2080C>G
ENST00000698630.1:n.2524C>G
ENST00000698631.1:n.2525C>G
ENST00000698632.1:n.3414C>G
ENST00000698633.1:n.3304C>G
ENST00000425368.7:c.1808C>G MANE Select	ENSP00000416561.2:p.Thr603Arg
ENST00000425368.6:c.1808C>G	ENSP00000416561.2:p.Thr603Arg
ENST00000456570.5:c.3314C>G	ENSP00000410815.1:p.Thr1105Arg
ENST00000467360.1:n.934C>G
ENST00000477310.1:c.2861C>G	ENSP00000418996.1:p.Thr954Arg
ENST00000482312.1:n.24C>G
ENST00000483004.1:c.430C>G
NM_001710.5:c.1808C>G , LRG_136t1:c.1808C>G	NP_001701.2:p.Thr603Arg
NM_001710.6:c.1808C>G MANE Select	NP_001701.2:p.Thr603Arg