Canonical Allele Identifier: CA449812131

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918475A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950698A>C , CM000668.2:g.31950698A>C	GRCh38
NC_000006.11:g.31918475A>C , CM000668.1:g.31918475A>C	GRCh37
NC_000006.10:g.32026454A>C	NCBI36
NG_008191.1:g.9755A>C , LRG_136:g.9755A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2096A>C
ENST00000483004.2:c.1488A>C	ENSP00000419887.2:p.Gly496=
ENST00000698628.1:c.1624+295A>C	ENSP00000513848.1:n.1624+295A>C
ENST00000698629.1:n.1881A>C
ENST00000698630.1:n.2420A>C
ENST00000698631.1:n.2421A>C
ENST00000698632.1:n.3215A>C
ENST00000698633.1:n.3105A>C
ENST00000698636.1:n.1926A>C
ENST00000425368.7:c.1704A>C MANE Select	ENSP00000416561.2:p.Gly568=
ENST00000425368.6:c.1704A>C	ENSP00000416561.2:p.Gly568=
ENST00000456570.5:c.3210A>C	ENSP00000410815.1:p.Gly1070=
ENST00000467360.1:n.830A>C
ENST00000477310.1:c.2757A>C	ENSP00000418996.1:p.Gly919=
ENST00000483004.1:c.326A>C
NM_001710.5:c.1704A>C , LRG_136t1:c.1704A>C	NP_001701.2:p.Gly568=
NM_001710.6:c.1704A>C MANE Select	NP_001701.2:p.Gly568=