Canonical Allele Identifier: CA363388315

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914227T>G (hg19) ; chr6:g.31946450T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946450T>G , CM000668.2:g.31946450T>G	GRCh38
NC_000006.11:g.31914227T>G , CM000668.1:g.31914227T>G	GRCh37
NC_000006.10:g.32022206T>G	NCBI36
NG_008191.1:g.5507T>G , LRG_136:g.5507T>G
NG_011730.1:g.23962T>G , LRG_26:g.23962T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.319T>G
ENST00000483004.2:c.142T>G	ENSP00000419887.2:p.Ser48Ala
ENST00000497841.6:c.142T>G	ENSP00000513847.1:p.Ser48Ala
ENST00000698628.1:c.142T>G	ENSP00000513848.1:p.Ser48Ala
ENST00000698629.1:n.319T>G
ENST00000698630.1:n.303T>G
ENST00000698631.1:n.298T>G
ENST00000698632.1:n.270T>G
ENST00000698633.1:n.240T>G
ENST00000698636.1:n.364T>G
ENST00000425368.7:c.142T>G MANE Select	ENSP00000416561.2:p.Ser48Ala
ENST00000425368.6:c.142T>G	ENSP00000416561.2:p.Ser48Ala
ENST00000452035.6:n.142T>G
ENST00000456570.5:c.1648T>G	ENSP00000410815.1:p.Ser550Ala
ENST00000460718.5:c.65-36T>G	ENSP00000417793.1:n.65-36T>G
ENST00000472581.1:n.389T>G
ENST00000475617.5:c.142T>G	ENSP00000420090.1:p.Ser48Ala
ENST00000477310.1:c.1352-557T>G	ENSP00000418996.1:n.1352-557T>G
NM_001710.5:c.142T>G , LRG_136t1:c.142T>G	NP_001701.2:p.Ser48Ala
NM_001710.6:c.142T>G MANE Select	NP_001701.2:p.Ser48Ala