Canonical Allele Identifier: CA363408977

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918471C>A (hg19) ; chr6:g.31950694C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950694C>A , CM000668.2:g.31950694C>A	GRCh38
NC_000006.11:g.31918471C>A , CM000668.1:g.31918471C>A	GRCh37
NC_000006.10:g.32026450C>A	NCBI36
NG_008191.1:g.9751C>A , LRG_136:g.9751C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2092C>A
ENST00000483004.2:c.1484C>A	ENSP00000419887.2:p.Ala495Glu
ENST00000698628.1:c.1624+291C>A	ENSP00000513848.1:n.1624+291C>A
ENST00000698629.1:n.1877C>A
ENST00000698630.1:n.2416C>A
ENST00000698631.1:n.2417C>A
ENST00000698632.1:n.3211C>A
ENST00000698633.1:n.3101C>A
ENST00000698636.1:n.1922C>A
ENST00000425368.7:c.1700C>A MANE Select	ENSP00000416561.2:p.Ala567Glu
ENST00000425368.6:c.1700C>A	ENSP00000416561.2:p.Ala567Glu
ENST00000456570.5:c.3206C>A	ENSP00000410815.1:p.Ala1069Glu
ENST00000467360.1:n.826C>A
ENST00000477310.1:c.2753C>A	ENSP00000418996.1:p.Ala918Glu
ENST00000483004.1:c.322C>A
NM_001710.5:c.1700C>A , LRG_136t1:c.1700C>A	NP_001701.2:p.Ala567Glu
NM_001710.6:c.1700C>A MANE Select	NP_001701.2:p.Ala567Glu