Canonical Allele Identifier: CA363409118

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918498A>C (hg19) ; chr6:g.31950721A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950721A>C , CM000668.2:g.31950721A>C	GRCh38
NC_000006.11:g.31918498A>C , CM000668.1:g.31918498A>C	GRCh37
NC_000006.10:g.32026477A>C	NCBI36
NG_008191.1:g.9778A>C , LRG_136:g.9778A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2119A>C
ENST00000483004.2:c.1511A>C	ENSP00000419887.2:p.Asp504Ala
ENST00000698628.1:c.1624+318A>C	ENSP00000513848.1:n.1624+318A>C
ENST00000698629.1:n.1904A>C
ENST00000698630.1:n.2443A>C
ENST00000698631.1:n.2444A>C
ENST00000698632.1:n.3238A>C
ENST00000698633.1:n.3128A>C
ENST00000698636.1:n.1949A>C
ENST00000425368.7:c.1727A>C MANE Select	ENSP00000416561.2:p.Asp576Ala
ENST00000425368.6:c.1727A>C	ENSP00000416561.2:p.Asp576Ala
ENST00000456570.5:c.3233A>C	ENSP00000410815.1:p.Asp1078Ala
ENST00000467360.1:n.853A>C
ENST00000477310.1:c.2780A>C	ENSP00000418996.1:p.Asp927Ala
ENST00000483004.1:c.349A>C
NM_001710.5:c.1727A>C , LRG_136t1:c.1727A>C	NP_001701.2:p.Asp576Ala
NM_001710.6:c.1727A>C MANE Select	NP_001701.2:p.Asp576Ala