Canonical Allele Identifier: CA363409049

Gene: CFB

Linked Data

• gnomAD v4: 6-31950708-T-C
• MyVariant Identifiers: chr6:g.31918485T>C (hg19) ; chr6:g.31950708T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950708T>C , CM000668.2:g.31950708T>C	GRCh38
NC_000006.11:g.31918485T>C , CM000668.1:g.31918485T>C	GRCh37
NC_000006.10:g.32026464T>C	NCBI36
NG_008191.1:g.9765T>C , LRG_136:g.9765T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2106T>C
ENST00000483004.2:c.1498T>C	ENSP00000419887.2:p.Phe500Leu
ENST00000698628.1:c.1624+305T>C	ENSP00000513848.1:n.1624+305T>C
ENST00000698629.1:n.1891T>C
ENST00000698630.1:n.2430T>C
ENST00000698631.1:n.2431T>C
ENST00000698632.1:n.3225T>C
ENST00000698633.1:n.3115T>C
ENST00000698636.1:n.1936T>C
ENST00000425368.7:c.1714T>C MANE Select	ENSP00000416561.2:p.Phe572Leu
ENST00000425368.6:c.1714T>C	ENSP00000416561.2:p.Phe572Leu
ENST00000456570.5:c.3220T>C	ENSP00000410815.1:p.Phe1074Leu
ENST00000467360.1:n.840T>C
ENST00000477310.1:c.2767T>C	ENSP00000418996.1:p.Phe923Leu
ENST00000483004.1:c.336T>C
NM_001710.5:c.1714T>C , LRG_136t1:c.1714T>C	NP_001701.2:p.Phe572Leu
NM_001710.6:c.1714T>C MANE Select	NP_001701.2:p.Phe572Leu