Canonical Allele Identifier: CA823922987

Gene: CFB

Linked Data

• dbSNP Id: rs1299910403
• gnomAD v3: 6-31950820-C-G
• gnomAD v4: 6-31950820-C-G
• MyVariant Identifiers: chr6:g.31918597C>G (hg19) ; chr6:g.31950820C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950820C>G , CM000668.2:g.31950820C>G	GRCh38
NC_000006.11:g.31918597C>G , CM000668.1:g.31918597C>G	GRCh37
NC_000006.10:g.32026576C>G	NCBI36
NG_008191.1:g.9877C>G , LRG_136:g.9877C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2218C>G
ENST00000483004.2:c.1563-48C>G	ENSP00000419887.2:n.1563-48C>G
ENST00000698628.1:c.1625-324C>G	ENSP00000513848.1:n.1625-324C>G
ENST00000698629.1:n.2003C>G
ENST00000698630.1:n.2495-48C>G
ENST00000698631.1:n.2496-48C>G
ENST00000698632.1:n.3337C>G
ENST00000698633.1:n.3227C>G
ENST00000425368.7:c.1779-48C>G MANE Select	ENSP00000416561.2:n.1779-48C>G
ENST00000425368.6:c.1779-48C>G	ENSP00000416561.2:n.1779-48C>G
ENST00000456570.5:c.3285-48C>G	ENSP00000410815.1:n.3285-48C>G
ENST00000467360.1:n.905-48C>G
ENST00000477310.1:c.2832-48C>G	ENSP00000418996.1:n.2832-48C>G
ENST00000483004.1:c.401-48C>G
NM_001710.5:c.1779-48C>G , LRG_136t1:c.1779-48C>G	NP_001701.2:n.1779-48C>G
NM_001710.6:c.1779-48C>G MANE Select	NP_001701.2:n.1779-48C>G