Canonical Allele Identifier: CA3728451

Gene: CFB

Linked Data

• dbSNP Id: rs756091491
• ExAC: 6:31918604 GA / G
• gnomAD v2: 6-31918604-GA-G
• gnomAD v3: 6-31950827-GA-G
• gnomAD v4: 6-31950827-GA-G
• MyVariant Identifiers: chr6:g.31918605del (hg19) ; chr6:g.31950828del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950828del , CM000668.2:g.31950828del	GRCh38
NC_000006.11:g.31918605del , CM000668.1:g.31918605del	GRCh37
NC_000006.10:g.32026584del	NCBI36
NG_008191.1:g.9885del , LRG_136:g.9885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2226del
ENST00000483004.2:c.1563-40del	ENSP00000419887.2:n.1563-40del
ENST00000698628.1:c.1625-316del	ENSP00000513848.1:n.1625-316del
ENST00000698629.1:n.2011del
ENST00000698630.1:n.2495-40del
ENST00000698631.1:n.2496-40del
ENST00000698632.1:n.3345del
ENST00000698633.1:n.3235del
ENST00000425368.7:c.1779-40del MANE Select	ENSP00000416561.2:n.1779-40del
ENST00000425368.6:c.1779-40del	ENSP00000416561.2:n.1779-40del
ENST00000456570.5:c.3285-40del	ENSP00000410815.1:n.3285-40del
ENST00000467360.1:n.905-40del
ENST00000477310.1:c.2832-40del	ENSP00000418996.1:n.2832-40del
ENST00000483004.1:c.401-40del
NM_001710.5:c.1779-40del , LRG_136t1:c.1779-40del	NP_001701.2:n.1779-40del
NM_001710.6:c.1779-40del MANE Select	NP_001701.2:n.1779-40del