Canonical Allele Identifier: CA363409194

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918510T>A (hg19) ; chr6:g.31950733T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950733T>A , CM000668.2:g.31950733T>A	GRCh38
NC_000006.11:g.31918510T>A , CM000668.1:g.31918510T>A	GRCh37
NC_000006.10:g.32026489T>A	NCBI36
NG_008191.1:g.9790T>A , LRG_136:g.9790T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2131T>A
ENST00000483004.2:c.1523T>A	ENSP00000419887.2:p.Ile508Asn
ENST00000698628.1:c.1624+330T>A	ENSP00000513848.1:n.1624+330T>A
ENST00000698629.1:n.1916T>A
ENST00000698630.1:n.2455T>A
ENST00000698631.1:n.2456T>A
ENST00000698632.1:n.3250T>A
ENST00000698633.1:n.3140T>A
ENST00000698636.1:n.1961T>A
ENST00000425368.7:c.1739T>A MANE Select	ENSP00000416561.2:p.Ile580Asn
ENST00000425368.6:c.1739T>A	ENSP00000416561.2:p.Ile580Asn
ENST00000456570.5:c.3245T>A	ENSP00000410815.1:p.Ile1082Asn
ENST00000467360.1:n.865T>A
ENST00000477310.1:c.2792T>A	ENSP00000418996.1:p.Ile931Asn
ENST00000483004.1:c.361T>A
NM_001710.5:c.1739T>A , LRG_136t1:c.1739T>A	NP_001701.2:p.Ile580Asn
NM_001710.6:c.1739T>A MANE Select	NP_001701.2:p.Ile580Asn