Canonical Allele Identifier: CA363409685

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918656T>C (hg19) ; chr6:g.31950879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950879T>C , CM000668.2:g.31950879T>C	GRCh38
NC_000006.11:g.31918656T>C , CM000668.1:g.31918656T>C	GRCh37
NC_000006.10:g.32026635T>C	NCBI36
NG_008191.1:g.9936T>C , LRG_136:g.9936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2277T>C
ENST00000483004.2:c.1574T>C	ENSP00000419887.2:p.Leu525Pro
ENST00000698628.1:c.1625-265T>C	ENSP00000513848.1:n.1625-265T>C
ENST00000698629.1:n.2062T>C
ENST00000698630.1:n.2506T>C
ENST00000698631.1:n.2507T>C
ENST00000698632.1:n.3396T>C
ENST00000698633.1:n.3286T>C
ENST00000425368.7:c.1790T>C MANE Select	ENSP00000416561.2:p.Leu597Pro
ENST00000425368.6:c.1790T>C	ENSP00000416561.2:p.Leu597Pro
ENST00000456570.5:c.3296T>C	ENSP00000410815.1:p.Leu1099Pro
ENST00000467360.1:n.916T>C
ENST00000477310.1:c.2843T>C	ENSP00000418996.1:p.Leu948Pro
ENST00000482312.1:n.6T>C
ENST00000483004.1:c.412T>C
NM_001710.5:c.1790T>C , LRG_136t1:c.1790T>C	NP_001701.2:p.Leu597Pro
NM_001710.6:c.1790T>C MANE Select	NP_001701.2:p.Leu597Pro