Canonical Allele Identifier: CA449812111

Gene: CFB

Linked Data

• dbSNP Id: rs1489504530
• gnomAD v3: 6-31950677-T-A
• gnomAD v4: 6-31950677-T-A
• MyVariant Identifiers: chr6:g.31918454T>A (hg19) ; chr6:g.31950677T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950677T>A , CM000668.2:g.31950677T>A	GRCh38
NC_000006.11:g.31918454T>A , CM000668.1:g.31918454T>A	GRCh37
NC_000006.10:g.32026433T>A	NCBI36
NG_008191.1:g.9734T>A , LRG_136:g.9734T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2075T>A
ENST00000483004.2:c.1467T>A	ENSP00000419887.2:p.Ile489=
ENST00000698628.1:c.1624+274T>A	ENSP00000513848.1:n.1624+274T>A
ENST00000698629.1:n.1860T>A
ENST00000698630.1:n.2399T>A
ENST00000698631.1:n.2400T>A
ENST00000698632.1:n.3194T>A
ENST00000698633.1:n.3084T>A
ENST00000698636.1:n.1905T>A
ENST00000425368.7:c.1683T>A MANE Select	ENSP00000416561.2:p.Ile561=
ENST00000425368.6:c.1683T>A	ENSP00000416561.2:p.Ile561=
ENST00000456570.5:c.3189T>A	ENSP00000410815.1:p.Ile1063=
ENST00000467360.1:n.809T>A
ENST00000477310.1:c.2736T>A	ENSP00000418996.1:p.Ile912=
ENST00000483004.1:c.305T>A
NM_001710.5:c.1683T>A , LRG_136t1:c.1683T>A	NP_001701.2:p.Ile561=
NM_001710.6:c.1683T>A MANE Select	NP_001701.2:p.Ile561=