Canonical Allele Identifier: CA363408824

Gene: CFB

Linked Data

• gnomAD v4: 6-31950669-T-A
• MyVariant Identifiers: chr6:g.31918446T>A (hg19) ; chr6:g.31950669T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950669T>A , CM000668.2:g.31950669T>A	GRCh38
NC_000006.11:g.31918446T>A , CM000668.1:g.31918446T>A	GRCh37
NC_000006.10:g.32026425T>A	NCBI36
NG_008191.1:g.9726T>A , LRG_136:g.9726T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2067T>A
ENST00000483004.2:c.1459T>A	ENSP00000419887.2:p.Tyr487Asn
ENST00000698628.1:c.1624+266T>A	ENSP00000513848.1:n.1624+266T>A
ENST00000698629.1:n.1852T>A
ENST00000698630.1:n.2391T>A
ENST00000698631.1:n.2392T>A
ENST00000698632.1:n.3186T>A
ENST00000698633.1:n.3076T>A
ENST00000698636.1:n.1897T>A
ENST00000425368.7:c.1675T>A MANE Select	ENSP00000416561.2:p.Tyr559Asn
ENST00000425368.6:c.1675T>A	ENSP00000416561.2:p.Tyr559Asn
ENST00000456570.5:c.3181T>A	ENSP00000410815.1:p.Tyr1061Asn
ENST00000467360.1:n.801T>A
ENST00000477310.1:c.2728T>A	ENSP00000418996.1:p.Tyr910Asn
ENST00000483004.1:c.297T>A
NM_001710.5:c.1675T>A , LRG_136t1:c.1675T>A	NP_001701.2:p.Tyr559Asn
NM_001710.6:c.1675T>A MANE Select	NP_001701.2:p.Tyr559Asn