Canonical Allele Identifier: CA363408722

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918432T>A (hg19) ; chr6:g.31950655T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950655T>A , CM000668.2:g.31950655T>A	GRCh38
NC_000006.11:g.31918432T>A , CM000668.1:g.31918432T>A	GRCh37
NC_000006.10:g.32026411T>A	NCBI36
NG_008191.1:g.9712T>A , LRG_136:g.9712T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2053T>A
ENST00000483004.2:c.1445T>A	ENSP00000419887.2:p.Leu482Gln
ENST00000698628.1:c.1624+252T>A	ENSP00000513848.1:n.1624+252T>A
ENST00000698629.1:n.1838T>A
ENST00000698630.1:n.2377T>A
ENST00000698631.1:n.2378T>A
ENST00000698632.1:n.3172T>A
ENST00000698633.1:n.3062T>A
ENST00000698636.1:n.1883T>A
ENST00000425368.7:c.1661T>A MANE Select	ENSP00000416561.2:p.Leu554Gln
ENST00000425368.6:c.1661T>A	ENSP00000416561.2:p.Leu554Gln
ENST00000456570.5:c.3167T>A	ENSP00000410815.1:p.Leu1056Gln
ENST00000467360.1:n.787T>A
ENST00000477310.1:c.2714T>A	ENSP00000418996.1:p.Leu905Gln
ENST00000483004.1:c.283T>A
NM_001710.5:c.1661T>A , LRG_136t1:c.1661T>A	NP_001701.2:p.Leu554Gln
NM_001710.6:c.1661T>A MANE Select	NP_001701.2:p.Leu554Gln