Canonical Allele Identifier: CA363409331

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918533T>A (hg19) ; chr6:g.31950756T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950756T>A , CM000668.2:g.31950756T>A	GRCh38
NC_000006.11:g.31918533T>A , CM000668.1:g.31918533T>A	GRCh37
NC_000006.10:g.32026512T>A	NCBI36
NG_008191.1:g.9813T>A , LRG_136:g.9813T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2154T>A
ENST00000483004.2:c.1546T>A	ENSP00000419887.2:p.Tyr516Asn
ENST00000698628.1:c.1624+353T>A	ENSP00000513848.1:n.1624+353T>A
ENST00000698629.1:n.1939T>A
ENST00000698630.1:n.2478T>A
ENST00000698631.1:n.2479T>A
ENST00000698632.1:n.3273T>A
ENST00000698633.1:n.3163T>A
ENST00000698636.1:n.1984T>A
ENST00000425368.7:c.1762T>A MANE Select	ENSP00000416561.2:p.Tyr588Asn
ENST00000425368.6:c.1762T>A	ENSP00000416561.2:p.Tyr588Asn
ENST00000456570.5:c.3268T>A	ENSP00000410815.1:p.Tyr1090Asn
ENST00000467360.1:n.888T>A
ENST00000477310.1:c.2815T>A	ENSP00000418996.1:p.Tyr939Asn
ENST00000483004.1:c.384T>A
NM_001710.5:c.1762T>A , LRG_136t1:c.1762T>A	NP_001701.2:p.Tyr588Asn
NM_001710.6:c.1762T>A MANE Select	NP_001701.2:p.Tyr588Asn