Canonical Allele Identifier: CA566693545

Gene: CFB

Linked Data

• dbSNP Id: rs1249055421
• gnomAD v2: 6-31919616-T-C
• gnomAD v4: 6-31951839-T-C
• MyVariant Identifiers: chr6:g.31919616T>C (hg19) ; chr6:g.31951839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951839T>C , CM000668.2:g.31951839T>C	GRCh38
NC_000006.11:g.31919616T>C , CM000668.1:g.31919616T>C	GRCh37
NC_000006.10:g.32027595T>C	NCBI36
NG_008191.1:g.10896T>C , LRG_136:g.10896T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2574-36T>C
ENST00000483004.2:c.1924-36T>C	ENSP00000419887.2:n.1924-36T>C
ENST00000698628.1:c.1909-36T>C	ENSP00000513848.1:n.1909-36T>C
ENST00000698629.1:n.2359-36T>C
ENST00000698630.1:n.2856-36T>C
ENST00000698631.1:n.2857-36T>C
ENST00000698632.1:n.3945-36T>C
ENST00000698633.1:n.3835-36T>C
ENST00000425368.7:c.2140-36T>C MANE Select	ENSP00000416561.2:n.2140-36T>C
ENST00000425368.6:c.2140-36T>C	ENSP00000416561.2:n.2140-36T>C
ENST00000456570.5:c.3646-36T>C	ENSP00000410815.1:n.3646-36T>C
ENST00000477310.1:c.3193-36T>C	ENSP00000418996.1:n.3193-36T>C
ENST00000482312.1:n.555-36T>C
ENST00000483004.1:c.762-36T>C
ENST00000498317.1:c.344T>C
NM_001710.5:c.2140-36T>C , LRG_136t1:c.2140-36T>C	NP_001701.2:n.2140-36T>C
NM_001710.6:c.2140-36T>C MANE Select	NP_001701.2:n.2140-36T>C