Canonical Allele Identifier: CA363408647

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918417A>C (hg19) ; chr6:g.31950640A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950640A>C , CM000668.2:g.31950640A>C	GRCh38
NC_000006.11:g.31918417A>C , CM000668.1:g.31918417A>C	GRCh37
NC_000006.10:g.32026396A>C	NCBI36
NG_008191.1:g.9697A>C , LRG_136:g.9697A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2038A>C
ENST00000483004.2:c.1430A>C	ENSP00000419887.2:p.Glu477Ala
ENST00000698628.1:c.1624+237A>C	ENSP00000513848.1:n.1624+237A>C
ENST00000698629.1:n.1823A>C
ENST00000698630.1:n.2362A>C
ENST00000698631.1:n.2363A>C
ENST00000698632.1:n.3157A>C
ENST00000698633.1:n.3047A>C
ENST00000698636.1:n.1868A>C
ENST00000425368.7:c.1646A>C MANE Select	ENSP00000416561.2:p.Glu549Ala
ENST00000425368.6:c.1646A>C	ENSP00000416561.2:p.Glu549Ala
ENST00000452035.6:n.1861A>C
ENST00000456570.5:c.3152A>C	ENSP00000410815.1:p.Glu1051Ala
ENST00000467360.1:n.772A>C
ENST00000477310.1:c.2699A>C	ENSP00000418996.1:p.Glu900Ala
ENST00000483004.1:c.268A>C
NM_001710.5:c.1646A>C , LRG_136t1:c.1646A>C	NP_001701.2:p.Glu549Ala
NM_001710.6:c.1646A>C MANE Select	NP_001701.2:p.Glu549Ala