Canonical Allele Identifier: CA3728459

Gene: CFB

Linked Data

• dbSNP Id: rs377025675
• ExAC: 6:31918669 G / C
• gnomAD v2: 6-31918669-G-C
• MyVariant Identifiers: chr6:g.31918669G>C (hg19) ; chr6:g.31950892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950892G>C , CM000668.2:g.31950892G>C	GRCh38
NC_000006.11:g.31918669G>C , CM000668.1:g.31918669G>C	GRCh37
NC_000006.10:g.32026648G>C	NCBI36
NG_008191.1:g.9949G>C , LRG_136:g.9949G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2290G>C
ENST00000483004.2:c.1587G>C	ENSP00000419887.2:p.Glu529Asp
ENST00000698628.1:c.1625-252G>C	ENSP00000513848.1:n.1625-252G>C
ENST00000698629.1:n.2075G>C
ENST00000698630.1:n.2519G>C
ENST00000698631.1:n.2520G>C
ENST00000698632.1:n.3409G>C
ENST00000698633.1:n.3299G>C
ENST00000425368.7:c.1803G>C MANE Select	ENSP00000416561.2:p.Glu601Asp
ENST00000425368.6:c.1803G>C	ENSP00000416561.2:p.Glu601Asp
ENST00000456570.5:c.3309G>C	ENSP00000410815.1:p.Glu1103Asp
ENST00000467360.1:n.929G>C
ENST00000477310.1:c.2856G>C	ENSP00000418996.1:p.Glu952Asp
ENST00000482312.1:n.19G>C
ENST00000483004.1:c.425G>C
NM_001710.5:c.1803G>C , LRG_136t1:c.1803G>C	NP_001701.2:p.Glu601Asp
NM_001710.6:c.1803G>C MANE Select	NP_001701.2:p.Glu601Asp