Canonical Allele Identifier: CA566693476

Gene: CFB

Linked Data

• dbSNP Id: rs1384148669
• gnomAD v2: 6-31918594-G-C
• gnomAD v3: 6-31950817-G-C
• gnomAD v4: 6-31950817-G-C
• MyVariant Identifiers: chr6:g.31918594G>C (hg19) ; chr6:g.31950817G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950817G>C , CM000668.2:g.31950817G>C	GRCh38
NC_000006.11:g.31918594G>C , CM000668.1:g.31918594G>C	GRCh37
NC_000006.10:g.32026573G>C	NCBI36
NG_008191.1:g.9874G>C , LRG_136:g.9874G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2215G>C
ENST00000483004.2:c.1562+45G>C	ENSP00000419887.2:n.1562+45G>C
ENST00000698628.1:c.1625-327G>C	ENSP00000513848.1:n.1625-327G>C
ENST00000698629.1:n.2000G>C
ENST00000698630.1:n.2494+45G>C
ENST00000698631.1:n.2495+45G>C
ENST00000698632.1:n.3334G>C
ENST00000698633.1:n.3224G>C
ENST00000425368.7:c.1778+45G>C MANE Select	ENSP00000416561.2:n.1778+45G>C
ENST00000425368.6:c.1778+45G>C	ENSP00000416561.2:n.1778+45G>C
ENST00000456570.5:c.3284+45G>C	ENSP00000410815.1:n.3284+45G>C
ENST00000467360.1:n.904+45G>C
ENST00000477310.1:c.2831+45G>C	ENSP00000418996.1:n.2831+45G>C
ENST00000483004.1:c.400+45G>C
NM_001710.5:c.1778+45G>C , LRG_136t1:c.1778+45G>C	NP_001701.2:n.1778+45G>C
NM_001710.6:c.1778+45G>C MANE Select	NP_001701.2:n.1778+45G>C