Canonical Allele Identifier: CA363409211

Gene: CFB

Linked Data

• COSMIC: COSM6471110
• MyVariant Identifiers: chr6:g.31918514G>T (hg19) ; chr6:g.31950737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950737G>T , CM000668.2:g.31950737G>T	GRCh38
NC_000006.11:g.31918514G>T , CM000668.1:g.31918514G>T	GRCh37
NC_000006.10:g.32026493G>T	NCBI36
NG_008191.1:g.9794G>T , LRG_136:g.9794G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2135G>T
ENST00000483004.2:c.1527G>T	ENSP00000419887.2:p.Lys509Asn
ENST00000698628.1:c.1624+334G>T	ENSP00000513848.1:n.1624+334G>T
ENST00000698629.1:n.1920G>T
ENST00000698630.1:n.2459G>T
ENST00000698631.1:n.2460G>T
ENST00000698632.1:n.3254G>T
ENST00000698633.1:n.3144G>T
ENST00000698636.1:n.1965G>T
ENST00000425368.7:c.1743G>T MANE Select	ENSP00000416561.2:p.Lys581Asn
ENST00000425368.6:c.1743G>T	ENSP00000416561.2:p.Lys581Asn
ENST00000456570.5:c.3249G>T	ENSP00000410815.1:p.Lys1083Asn
ENST00000467360.1:n.869G>T
ENST00000477310.1:c.2796G>T	ENSP00000418996.1:p.Lys932Asn
ENST00000483004.1:c.365G>T
NM_001710.5:c.1743G>T , LRG_136t1:c.1743G>T	NP_001701.2:p.Lys581Asn
NM_001710.6:c.1743G>T MANE Select	NP_001701.2:p.Lys581Asn