Canonical Allele Identifier: CA363409254

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918521A>C (hg19) ; chr6:g.31950744A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950744A>C , CM000668.2:g.31950744A>C	GRCh38
NC_000006.11:g.31918521A>C , CM000668.1:g.31918521A>C	GRCh37
NC_000006.10:g.32026500A>C	NCBI36
NG_008191.1:g.9801A>C , LRG_136:g.9801A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2142A>C
ENST00000483004.2:c.1534A>C	ENSP00000419887.2:p.Asn512His
ENST00000698628.1:c.1624+341A>C	ENSP00000513848.1:n.1624+341A>C
ENST00000698629.1:n.1927A>C
ENST00000698630.1:n.2466A>C
ENST00000698631.1:n.2467A>C
ENST00000698632.1:n.3261A>C
ENST00000698633.1:n.3151A>C
ENST00000698636.1:n.1972A>C
ENST00000425368.7:c.1750A>C MANE Select	ENSP00000416561.2:p.Asn584His
ENST00000425368.6:c.1750A>C	ENSP00000416561.2:p.Asn584His
ENST00000456570.5:c.3256A>C	ENSP00000410815.1:p.Asn1086His
ENST00000467360.1:n.876A>C
ENST00000477310.1:c.2803A>C	ENSP00000418996.1:p.Asn935His
ENST00000483004.1:c.372A>C
NM_001710.5:c.1750A>C , LRG_136t1:c.1750A>C	NP_001701.2:p.Asn584His
NM_001710.6:c.1750A>C MANE Select	NP_001701.2:p.Asn584His