Canonical Allele Identifier: CA363408595

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918404A>C (hg19) ; chr6:g.31950627A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950627A>C , CM000668.2:g.31950627A>C	GRCh38
NC_000006.11:g.31918404A>C , CM000668.1:g.31918404A>C	GRCh37
NC_000006.10:g.32026383A>C	NCBI36
NG_008191.1:g.9684A>C , LRG_136:g.9684A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2025A>C
ENST00000483004.2:c.1417A>C	ENSP00000419887.2:p.Lys473Gln
ENST00000698628.1:c.1624+224A>C	ENSP00000513848.1:n.1624+224A>C
ENST00000698629.1:n.1810A>C
ENST00000698630.1:n.2349A>C
ENST00000698631.1:n.2350A>C
ENST00000698632.1:n.3144A>C
ENST00000698633.1:n.3034A>C
ENST00000698636.1:n.1855A>C
ENST00000425368.7:c.1633A>C MANE Select	ENSP00000416561.2:p.Lys545Gln
ENST00000425368.6:c.1633A>C	ENSP00000416561.2:p.Lys545Gln
ENST00000452035.6:n.1848A>C
ENST00000456570.5:c.3139A>C	ENSP00000410815.1:p.Lys1047Gln
ENST00000467360.1:n.759A>C
ENST00000477310.1:c.2686A>C	ENSP00000418996.1:p.Lys896Gln
ENST00000483004.1:c.255A>C
NM_001710.5:c.1633A>C , LRG_136t1:c.1633A>C	NP_001701.2:p.Lys545Gln
NM_001710.6:c.1633A>C MANE Select	NP_001701.2:p.Lys545Gln