Canonical Allele Identifier: CA12266126
Gene: CFB HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31949763T>C
GRCh37 chr6:g.31917540T>C
gnomAD v2:
6:31917540 T / C
gnomAD v3:
6:31949763 T / C
gnomAD v4:
chr6-31949763-T-C
Joint Max Group AF 0.45026321 (MID)
Genomes Max Group AF 0.33770887 (NFE)
Exomes Max Group AF 0.45212824 (MID)
ClinVar RCV:
RCV001659453
ClinVar Variation:
1259216
dbSNP:
4151657
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31949763T>C , CM000668.2:g.31949763T>C GRCh38
NC_000006.11:g.31917540T>C , CM000668.1:g.31917540T>C GRCh37
NC_000006.10:g.32025519T>C NCBI36
NG_008191.1:g.8820T>C , LRG_136:g.8820T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.1585+206T>C
ENST00000483004.2:c.1408+206T>C ENSP00000419887.2:n.1408+206T>C
ENST00000698628.1:c.1408+206T>C ENSP00000513848.1:n.1408+206T>C
ENST00000698629.1:n.1585+206T>C
ENST00000698630.1:n.2124+206T>C
ENST00000698631.1:n.2125+206T>C
ENST00000698632.1:n.2704+206T>C
ENST00000698633.1:n.2594+206T>C
ENST00000698636.1:n.1630+206T>C
ENST00000425368.7:c.1408+206T>C MANE Select ENSP00000416561.2:n.1408+206T>C
ENST00000425368.6:c.1408+206T>C ENSP00000416561.2:n.1408+206T>C
ENST00000452035.6:n.1408+206T>C
ENST00000456570.5:c.2914+206T>C ENSP00000410815.1:n.2914+206T>C
ENST00000467360.1:n.33T>C
ENST00000477310.1:c.2461+206T>C ENSP00000418996.1:n.2461+206T>C
ENST00000483004.1:c.246+206T>C
NM_001710.5:c.1408+206T>C , LRG_136t1:c.1408+206T>C NP_001701.2:n.1408+206T>C
NM_001710.6:c.1408+206T>C MANE Select NP_001701.2:n.1408+206T>C
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