Canonical Allele Identifier: CA566693492

Gene: CFB

Linked Data

• dbSNP Id: rs1401717401
• gnomAD v2: 6-31918742-G-A
• gnomAD v3: 6-31950965-G-A
• gnomAD v4: 6-31950965-G-A
• MyVariant Identifiers: chr6:g.31918742G>A (hg19) ; chr6:g.31950965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950965G>A , CM000668.2:g.31950965G>A	GRCh38
NC_000006.11:g.31918742G>A , CM000668.1:g.31918742G>A	GRCh37
NC_000006.10:g.32026721G>A	NCBI36
NG_008191.1:g.10022G>A , LRG_136:g.10022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+21G>A
ENST00000483004.2:c.1639+21G>A	ENSP00000419887.2:n.1639+21G>A
ENST00000698628.1:c.1625-179G>A	ENSP00000513848.1:n.1625-179G>A
ENST00000698629.1:n.2127+21G>A
ENST00000698630.1:n.2571+21G>A
ENST00000698631.1:n.2572+21G>A
ENST00000698632.1:n.3482G>A
ENST00000698633.1:n.3372G>A
ENST00000425368.7:c.1855+21G>A MANE Select	ENSP00000416561.2:n.1855+21G>A
ENST00000425368.6:c.1855+21G>A	ENSP00000416561.2:n.1855+21G>A
ENST00000456570.5:c.3361+21G>A	ENSP00000410815.1:n.3361+21G>A
ENST00000467360.1:n.981+21G>A
ENST00000477310.1:c.2908+21G>A	ENSP00000418996.1:n.2908+21G>A
ENST00000482312.1:n.92G>A
ENST00000483004.1:c.477+21G>A
NM_001710.5:c.1855+21G>A , LRG_136t1:c.1855+21G>A	NP_001701.2:n.1855+21G>A
NM_001710.6:c.1855+21G>A MANE Select	NP_001701.2:n.1855+21G>A