Canonical Allele Identifier: CA363409933

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918689G>C (hg19) ; chr6:g.31950912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950912G>C , CM000668.2:g.31950912G>C	GRCh38
NC_000006.11:g.31918689G>C , CM000668.1:g.31918689G>C	GRCh37
NC_000006.10:g.32026668G>C	NCBI36
NG_008191.1:g.9969G>C , LRG_136:g.9969G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2310G>C
ENST00000483004.2:c.1607G>C	ENSP00000419887.2:p.Arg536Thr
ENST00000698628.1:c.1625-232G>C	ENSP00000513848.1:n.1625-232G>C
ENST00000698629.1:n.2095G>C
ENST00000698630.1:n.2539G>C
ENST00000698631.1:n.2540G>C
ENST00000698632.1:n.3429G>C
ENST00000698633.1:n.3319G>C
ENST00000425368.7:c.1823G>C MANE Select	ENSP00000416561.2:p.Arg608Thr
ENST00000425368.6:c.1823G>C	ENSP00000416561.2:p.Arg608Thr
ENST00000456570.5:c.3329G>C	ENSP00000410815.1:p.Arg1110Thr
ENST00000467360.1:n.949G>C
ENST00000477310.1:c.2876G>C	ENSP00000418996.1:p.Arg959Thr
ENST00000482312.1:n.39G>C
ENST00000483004.1:c.445G>C
NM_001710.5:c.1823G>C , LRG_136t1:c.1823G>C	NP_001701.2:p.Arg608Thr
NM_001710.6:c.1823G>C MANE Select	NP_001701.2:p.Arg608Thr