Canonical Allele Identifier: CA363409895

Gene: CFB

Linked Data

• dbSNP Id: rs1344025131
• gnomAD v2: 6-31918685-T-G
• gnomAD v4: 6-31950908-T-G
• MyVariant Identifiers: chr6:g.31918685T>G (hg19) ; chr6:g.31950908T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950908T>G , CM000668.2:g.31950908T>G	GRCh38
NC_000006.11:g.31918685T>G , CM000668.1:g.31918685T>G	GRCh37
NC_000006.10:g.32026664T>G	NCBI36
NG_008191.1:g.9965T>G , LRG_136:g.9965T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2306T>G
ENST00000483004.2:c.1603T>G	ENSP00000419887.2:p.Leu535Val
ENST00000698628.1:c.1625-236T>G	ENSP00000513848.1:n.1625-236T>G
ENST00000698629.1:n.2091T>G
ENST00000698630.1:n.2535T>G
ENST00000698631.1:n.2536T>G
ENST00000698632.1:n.3425T>G
ENST00000698633.1:n.3315T>G
ENST00000425368.7:c.1819T>G MANE Select	ENSP00000416561.2:p.Leu607Val
ENST00000425368.6:c.1819T>G	ENSP00000416561.2:p.Leu607Val
ENST00000456570.5:c.3325T>G	ENSP00000410815.1:p.Leu1109Val
ENST00000467360.1:n.945T>G
ENST00000477310.1:c.2872T>G	ENSP00000418996.1:p.Leu958Val
ENST00000482312.1:n.35T>G
ENST00000483004.1:c.441T>G
NM_001710.5:c.1819T>G , LRG_136t1:c.1819T>G	NP_001701.2:p.Leu607Val
NM_001710.6:c.1819T>G MANE Select	NP_001701.2:p.Leu607Val