Canonical Allele Identifier: CA566693483

Gene: CFB

Linked Data

• dbSNP Id: rs764242394
• gnomAD v2: 6-31918607-G-C
• gnomAD v4: 6-31950830-G-C
• MyVariant Identifiers: chr6:g.31918607G>C (hg19) ; chr6:g.31950830G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950830G>C , CM000668.2:g.31950830G>C	GRCh38
NC_000006.11:g.31918607G>C , CM000668.1:g.31918607G>C	GRCh37
NC_000006.10:g.32026586G>C	NCBI36
NG_008191.1:g.9887G>C , LRG_136:g.9887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2228G>C
ENST00000483004.2:c.1563-38G>C	ENSP00000419887.2:n.1563-38G>C
ENST00000698628.1:c.1625-314G>C	ENSP00000513848.1:n.1625-314G>C
ENST00000698629.1:n.2013G>C
ENST00000698630.1:n.2495-38G>C
ENST00000698631.1:n.2496-38G>C
ENST00000698632.1:n.3347G>C
ENST00000698633.1:n.3237G>C
ENST00000425368.7:c.1779-38G>C MANE Select	ENSP00000416561.2:n.1779-38G>C
ENST00000425368.6:c.1779-38G>C	ENSP00000416561.2:n.1779-38G>C
ENST00000456570.5:c.3285-38G>C	ENSP00000410815.1:n.3285-38G>C
ENST00000467360.1:n.905-38G>C
ENST00000477310.1:c.2832-38G>C	ENSP00000418996.1:n.2832-38G>C
ENST00000483004.1:c.401-38G>C
NM_001710.5:c.1779-38G>C , LRG_136t1:c.1779-38G>C	NP_001701.2:n.1779-38G>C
NM_001710.6:c.1779-38G>C MANE Select	NP_001701.2:n.1779-38G>C