Canonical Allele Identifier: CA363408855

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918451C>A (hg19) ; chr6:g.31950674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950674C>A , CM000668.2:g.31950674C>A	GRCh38
NC_000006.11:g.31918451C>A , CM000668.1:g.31918451C>A	GRCh37
NC_000006.10:g.32026430C>A	NCBI36
NG_008191.1:g.9731C>A , LRG_136:g.9731C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2072C>A
ENST00000483004.2:c.1464C>A	ENSP00000419887.2:p.Asn488Lys
ENST00000698628.1:c.1624+271C>A	ENSP00000513848.1:n.1624+271C>A
ENST00000698629.1:n.1857C>A
ENST00000698630.1:n.2396C>A
ENST00000698631.1:n.2397C>A
ENST00000698632.1:n.3191C>A
ENST00000698633.1:n.3081C>A
ENST00000698636.1:n.1902C>A
ENST00000425368.7:c.1680C>A MANE Select	ENSP00000416561.2:p.Asn560Lys
ENST00000425368.6:c.1680C>A	ENSP00000416561.2:p.Asn560Lys
ENST00000456570.5:c.3186C>A	ENSP00000410815.1:p.Asn1062Lys
ENST00000467360.1:n.806C>A
ENST00000477310.1:c.2733C>A	ENSP00000418996.1:p.Asn911Lys
ENST00000483004.1:c.302C>A
NM_001710.5:c.1680C>A , LRG_136t1:c.1680C>A	NP_001701.2:p.Asn560Lys
NM_001710.6:c.1680C>A MANE Select	NP_001701.2:p.Asn560Lys