Canonical Allele Identifier: CA363408993

Gene: CFB

Linked Data

• gnomAD v4: 6-31950697-G-C
• MyVariant Identifiers: chr6:g.31918474G>C (hg19) ; chr6:g.31950697G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950697G>C , CM000668.2:g.31950697G>C	GRCh38
NC_000006.11:g.31918474G>C , CM000668.1:g.31918474G>C	GRCh37
NC_000006.10:g.32026453G>C	NCBI36
NG_008191.1:g.9754G>C , LRG_136:g.9754G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2095G>C
ENST00000483004.2:c.1487G>C	ENSP00000419887.2:p.Gly496Ala
ENST00000698628.1:c.1624+294G>C	ENSP00000513848.1:n.1624+294G>C
ENST00000698629.1:n.1880G>C
ENST00000698630.1:n.2419G>C
ENST00000698631.1:n.2420G>C
ENST00000698632.1:n.3214G>C
ENST00000698633.1:n.3104G>C
ENST00000698636.1:n.1925G>C
ENST00000425368.7:c.1703G>C MANE Select	ENSP00000416561.2:p.Gly568Ala
ENST00000425368.6:c.1703G>C	ENSP00000416561.2:p.Gly568Ala
ENST00000456570.5:c.3209G>C	ENSP00000410815.1:p.Gly1070Ala
ENST00000467360.1:n.829G>C
ENST00000477310.1:c.2756G>C	ENSP00000418996.1:p.Gly919Ala
ENST00000483004.1:c.325G>C
NM_001710.5:c.1703G>C , LRG_136t1:c.1703G>C	NP_001701.2:p.Gly568Ala
NM_001710.6:c.1703G>C MANE Select	NP_001701.2:p.Gly568Ala