Canonical Allele Identifier: CA363409129

Gene: CFB

Linked Data

• gnomAD v4: 6-31950723-G-T
• MyVariant Identifiers: chr6:g.31918500G>T (hg19) ; chr6:g.31950723G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950723G>T , CM000668.2:g.31950723G>T	GRCh38
NC_000006.11:g.31918500G>T , CM000668.1:g.31918500G>T	GRCh37
NC_000006.10:g.32026479G>T	NCBI36
NG_008191.1:g.9780G>T , LRG_136:g.9780G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2121G>T
ENST00000483004.2:c.1513G>T	ENSP00000419887.2:p.Val505Phe
ENST00000698628.1:c.1624+320G>T	ENSP00000513848.1:n.1624+320G>T
ENST00000698629.1:n.1906G>T
ENST00000698630.1:n.2445G>T
ENST00000698631.1:n.2446G>T
ENST00000698632.1:n.3240G>T
ENST00000698633.1:n.3130G>T
ENST00000698636.1:n.1951G>T
ENST00000425368.7:c.1729G>T MANE Select	ENSP00000416561.2:p.Val577Phe
ENST00000425368.6:c.1729G>T	ENSP00000416561.2:p.Val577Phe
ENST00000456570.5:c.3235G>T	ENSP00000410815.1:p.Val1079Phe
ENST00000467360.1:n.855G>T
ENST00000477310.1:c.2782G>T	ENSP00000418996.1:p.Val928Phe
ENST00000483004.1:c.351G>T
NM_001710.5:c.1729G>T , LRG_136t1:c.1729G>T	NP_001701.2:p.Val577Phe
NM_001710.6:c.1729G>T MANE Select	NP_001701.2:p.Val577Phe