Canonical Allele Identifier: CA363409141

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918503G>A (hg19) ; chr6:g.31950726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950726G>A , CM000668.2:g.31950726G>A	GRCh38
NC_000006.11:g.31918503G>A , CM000668.1:g.31918503G>A	GRCh37
NC_000006.10:g.32026482G>A	NCBI36
NG_008191.1:g.9783G>A , LRG_136:g.9783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2124G>A
ENST00000483004.2:c.1516G>A	ENSP00000419887.2:p.Ala506Thr
ENST00000698628.1:c.1624+323G>A	ENSP00000513848.1:n.1624+323G>A
ENST00000698629.1:n.1909G>A
ENST00000698630.1:n.2448G>A
ENST00000698631.1:n.2449G>A
ENST00000698632.1:n.3243G>A
ENST00000698633.1:n.3133G>A
ENST00000698636.1:n.1954G>A
ENST00000425368.7:c.1732G>A MANE Select	ENSP00000416561.2:p.Ala578Thr
ENST00000425368.6:c.1732G>A	ENSP00000416561.2:p.Ala578Thr
ENST00000456570.5:c.3238G>A	ENSP00000410815.1:p.Ala1080Thr
ENST00000467360.1:n.858G>A
ENST00000477310.1:c.2785G>A	ENSP00000418996.1:p.Ala929Thr
ENST00000483004.1:c.354G>A
NM_001710.5:c.1732G>A , LRG_136t1:c.1732G>A	NP_001701.2:p.Ala578Thr
NM_001710.6:c.1732G>A MANE Select	NP_001701.2:p.Ala578Thr