Canonical Allele Identifier: CA363409108

Gene: CFB

Linked Data

• gnomAD v4: 6-31950719-T-G
• MyVariant Identifiers: chr6:g.31918496T>G (hg19) ; chr6:g.31950719T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950719T>G , CM000668.2:g.31950719T>G	GRCh38
NC_000006.11:g.31918496T>G , CM000668.1:g.31918496T>G	GRCh37
NC_000006.10:g.32026475T>G	NCBI36
NG_008191.1:g.9776T>G , LRG_136:g.9776T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2117T>G
ENST00000483004.2:c.1509T>G	ENSP00000419887.2:p.Tyr503Ter
ENST00000698628.1:c.1624+316T>G	ENSP00000513848.1:n.1624+316T>G
ENST00000698629.1:n.1902T>G
ENST00000698630.1:n.2441T>G
ENST00000698631.1:n.2442T>G
ENST00000698632.1:n.3236T>G
ENST00000698633.1:n.3126T>G
ENST00000698636.1:n.1947T>G
ENST00000425368.7:c.1725T>G MANE Select	ENSP00000416561.2:p.Tyr575Ter
ENST00000425368.6:c.1725T>G	ENSP00000416561.2:p.Tyr575Ter
ENST00000456570.5:c.3231T>G	ENSP00000410815.1:p.Tyr1077Ter
ENST00000467360.1:n.851T>G
ENST00000477310.1:c.2778T>G	ENSP00000418996.1:p.Tyr926Ter
ENST00000483004.1:c.347T>G
NM_001710.5:c.1725T>G , LRG_136t1:c.1725T>G	NP_001701.2:p.Tyr575Ter
NM_001710.6:c.1725T>G MANE Select	NP_001701.2:p.Tyr575Ter