Canonical Allele Identifier: CA363408347

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918169A>T (hg19) ; chr6:g.31950392A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950392A>T , CM000668.2:g.31950392A>T	GRCh38
NC_000006.11:g.31918169A>T , CM000668.1:g.31918169A>T	GRCh37
NC_000006.10:g.32026148A>T	NCBI36
NG_008191.1:g.9449A>T , LRG_136:g.9449A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1790A>T
ENST00000483004.2:c.1409-227A>T	ENSP00000419887.2:n.1409-227A>T
ENST00000698628.1:c.1613A>T	ENSP00000513848.1:p.Lys538Met
ENST00000698629.1:n.1790A>T
ENST00000698630.1:n.2329A>T
ENST00000698631.1:n.2330A>T
ENST00000698632.1:n.2909A>T
ENST00000698633.1:n.2799A>T
ENST00000698636.1:n.1835A>T
ENST00000425368.7:c.1613A>T MANE Select	ENSP00000416561.2:p.Lys538Met
ENST00000425368.6:c.1613A>T	ENSP00000416561.2:p.Lys538Met
ENST00000452035.6:n.1613A>T
ENST00000456570.5:c.3119A>T	ENSP00000410815.1:p.Lys1040Met
ENST00000467360.1:n.524A>T
ENST00000477310.1:c.2666A>T	ENSP00000418996.1:p.Lys889Met
ENST00000483004.1:c.247-227A>T
NM_001710.5:c.1613A>T , LRG_136t1:c.1613A>T	NP_001701.2:p.Lys538Met
NM_001710.6:c.1613A>T MANE Select	NP_001701.2:p.Lys538Met