Canonical Allele Identifier: CA136897954

Gene: CFB

Linked Data

• dbSNP Id: rs762155843
• gnomAD v2: 6-31918716-A-C
• gnomAD v4: 6-31950939-A-C
• MyVariant Identifiers: chr6:g.31918716A>C (hg19) ; chr6:g.31950939A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950939A>C , CM000668.2:g.31950939A>C	GRCh38
NC_000006.11:g.31918716A>C , CM000668.1:g.31918716A>C	GRCh37
NC_000006.10:g.32026695A>C	NCBI36
NG_008191.1:g.9996A>C , LRG_136:g.9996A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2337A>C
ENST00000483004.2:c.1634A>C	ENSP00000419887.2:p.Gln545Pro
ENST00000698628.1:c.1625-205A>C	ENSP00000513848.1:n.1625-205A>C
ENST00000698629.1:n.2122A>C
ENST00000698630.1:n.2566A>C
ENST00000698631.1:n.2567A>C
ENST00000698632.1:n.3456A>C
ENST00000698633.1:n.3346A>C
ENST00000425368.7:c.1850A>C MANE Select	ENSP00000416561.2:p.Gln617Pro
ENST00000425368.6:c.1850A>C	ENSP00000416561.2:p.Gln617Pro
ENST00000456570.5:c.3356A>C	ENSP00000410815.1:p.Gln1119Pro
ENST00000467360.1:n.976A>C
ENST00000477310.1:c.2903A>C	ENSP00000418996.1:p.Gln968Pro
ENST00000482312.1:n.66A>C
ENST00000483004.1:c.472A>C
NM_001710.5:c.1850A>C , LRG_136t1:c.1850A>C	NP_001701.2:p.Gln617Pro
NM_001710.6:c.1850A>C MANE Select	NP_001701.2:p.Gln617Pro