Canonical Allele Identifier: CA363410055

Gene: CFB

Linked Data

• gnomAD v4: 6-31950924-C-T
• MyVariant Identifiers: chr6:g.31918701C>T (hg19) ; chr6:g.31950924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950924C>T , CM000668.2:g.31950924C>T	GRCh38
NC_000006.11:g.31918701C>T , CM000668.1:g.31918701C>T	GRCh37
NC_000006.10:g.32026680C>T	NCBI36
NG_008191.1:g.9981C>T , LRG_136:g.9981C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2322C>T
ENST00000483004.2:c.1619C>T	ENSP00000419887.2:p.Thr540Ile
ENST00000698628.1:c.1625-220C>T	ENSP00000513848.1:n.1625-220C>T
ENST00000698629.1:n.2107C>T
ENST00000698630.1:n.2551C>T
ENST00000698631.1:n.2552C>T
ENST00000698632.1:n.3441C>T
ENST00000698633.1:n.3331C>T
ENST00000425368.7:c.1835C>T MANE Select	ENSP00000416561.2:p.Thr612Ile
ENST00000425368.6:c.1835C>T	ENSP00000416561.2:p.Thr612Ile
ENST00000456570.5:c.3341C>T	ENSP00000410815.1:p.Thr1114Ile
ENST00000467360.1:n.961C>T
ENST00000477310.1:c.2888C>T	ENSP00000418996.1:p.Thr963Ile
ENST00000482312.1:n.51C>T
ENST00000483004.1:c.457C>T
NM_001710.5:c.1835C>T , LRG_136t1:c.1835C>T	NP_001701.2:p.Thr612Ile
NM_001710.6:c.1835C>T MANE Select	NP_001701.2:p.Thr612Ile