Canonical Allele Identifier: CA363409132

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918501T>A (hg19) ; chr6:g.31950724T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950724T>A , CM000668.2:g.31950724T>A	GRCh38
NC_000006.11:g.31918501T>A , CM000668.1:g.31918501T>A	GRCh37
NC_000006.10:g.32026480T>A	NCBI36
NG_008191.1:g.9781T>A , LRG_136:g.9781T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2122T>A
ENST00000483004.2:c.1514T>A	ENSP00000419887.2:p.Val505Asp
ENST00000698628.1:c.1624+321T>A	ENSP00000513848.1:n.1624+321T>A
ENST00000698629.1:n.1907T>A
ENST00000698630.1:n.2446T>A
ENST00000698631.1:n.2447T>A
ENST00000698632.1:n.3241T>A
ENST00000698633.1:n.3131T>A
ENST00000698636.1:n.1952T>A
ENST00000425368.7:c.1730T>A MANE Select	ENSP00000416561.2:p.Val577Asp
ENST00000425368.6:c.1730T>A	ENSP00000416561.2:p.Val577Asp
ENST00000456570.5:c.3236T>A	ENSP00000410815.1:p.Val1079Asp
ENST00000467360.1:n.856T>A
ENST00000477310.1:c.2783T>A	ENSP00000418996.1:p.Val928Asp
ENST00000483004.1:c.352T>A
NM_001710.5:c.1730T>A , LRG_136t1:c.1730T>A	NP_001701.2:p.Val577Asp
NM_001710.6:c.1730T>A MANE Select	NP_001701.2:p.Val577Asp