Canonical Allele Identifier: CA363408937

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918464A>C (hg19) ; chr6:g.31950687A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950687A>C , CM000668.2:g.31950687A>C	GRCh38
NC_000006.11:g.31918464A>C , CM000668.1:g.31918464A>C	GRCh37
NC_000006.10:g.32026443A>C	NCBI36
NG_008191.1:g.9744A>C , LRG_136:g.9744A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2085A>C
ENST00000483004.2:c.1477A>C	ENSP00000419887.2:p.Lys493Gln
ENST00000698628.1:c.1624+284A>C	ENSP00000513848.1:n.1624+284A>C
ENST00000698629.1:n.1870A>C
ENST00000698630.1:n.2409A>C
ENST00000698631.1:n.2410A>C
ENST00000698632.1:n.3204A>C
ENST00000698633.1:n.3094A>C
ENST00000698636.1:n.1915A>C
ENST00000425368.7:c.1693A>C MANE Select	ENSP00000416561.2:p.Lys565Gln
ENST00000425368.6:c.1693A>C	ENSP00000416561.2:p.Lys565Gln
ENST00000456570.5:c.3199A>C	ENSP00000410815.1:p.Lys1067Gln
ENST00000467360.1:n.819A>C
ENST00000477310.1:c.2746A>C	ENSP00000418996.1:p.Lys916Gln
ENST00000483004.1:c.315A>C
NM_001710.5:c.1693A>C , LRG_136t1:c.1693A>C	NP_001701.2:p.Lys565Gln
NM_001710.6:c.1693A>C MANE Select	NP_001701.2:p.Lys565Gln