Canonical Allele Identifier: CA3728377

Gene: CFB

Linked Data

• dbSNP Id: rs772160942
• ExAC: 6:31918172 T / A
• gnomAD v2: 6-31918172-T-A
• gnomAD v4: 6-31950395-T-A
• MyVariant Identifiers: chr6:g.31918172T>A (hg19) ; chr6:g.31950395T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950395T>A , CM000668.2:g.31950395T>A	GRCh38
NC_000006.11:g.31918172T>A , CM000668.1:g.31918172T>A	GRCh37
NC_000006.10:g.32026151T>A	NCBI36
NG_008191.1:g.9452T>A , LRG_136:g.9452T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1793T>A
ENST00000483004.2:c.1409-224T>A	ENSP00000419887.2:n.1409-224T>A
ENST00000698628.1:c.1616T>A	ENSP00000513848.1:p.Val539Asp
ENST00000698629.1:n.1793T>A
ENST00000698630.1:n.2332T>A
ENST00000698631.1:n.2333T>A
ENST00000698632.1:n.2912T>A
ENST00000698633.1:n.2802T>A
ENST00000698636.1:n.1838T>A
ENST00000425368.7:c.1616T>A MANE Select	ENSP00000416561.2:p.Val539Asp
ENST00000425368.6:c.1616T>A	ENSP00000416561.2:p.Val539Asp
ENST00000452035.6:n.1616T>A
ENST00000456570.5:c.3122T>A	ENSP00000410815.1:p.Val1041Asp
ENST00000467360.1:n.527T>A
ENST00000477310.1:c.2669T>A	ENSP00000418996.1:p.Val890Asp
ENST00000483004.1:c.247-224T>A
NM_001710.5:c.1616T>A , LRG_136t1:c.1616T>A	NP_001701.2:p.Val539Asp
NM_001710.6:c.1616T>A MANE Select	NP_001701.2:p.Val539Asp