Canonical Allele Identifier: CA449812113

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918457T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950680T>C , CM000668.2:g.31950680T>C	GRCh38
NC_000006.11:g.31918457T>C , CM000668.1:g.31918457T>C	GRCh37
NC_000006.10:g.32026436T>C	NCBI36
NG_008191.1:g.9737T>C , LRG_136:g.9737T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2078T>C
ENST00000483004.2:c.1470T>C	ENSP00000419887.2:p.Asn490=
ENST00000698628.1:c.1624+277T>C	ENSP00000513848.1:n.1624+277T>C
ENST00000698629.1:n.1863T>C
ENST00000698630.1:n.2402T>C
ENST00000698631.1:n.2403T>C
ENST00000698632.1:n.3197T>C
ENST00000698633.1:n.3087T>C
ENST00000698636.1:n.1908T>C
ENST00000425368.7:c.1686T>C MANE Select	ENSP00000416561.2:p.Asn562=
ENST00000425368.6:c.1686T>C	ENSP00000416561.2:p.Asn562=
ENST00000456570.5:c.3192T>C	ENSP00000410815.1:p.Asn1064=
ENST00000467360.1:n.812T>C
ENST00000477310.1:c.2739T>C	ENSP00000418996.1:p.Asn913=
ENST00000483004.1:c.308T>C
NM_001710.5:c.1686T>C , LRG_136t1:c.1686T>C	NP_001701.2:p.Asn562=
NM_001710.6:c.1686T>C MANE Select	NP_001701.2:p.Asn562=