Canonical Allele Identifier: CA3728480

Gene: CFB

Linked Data

• dbSNP Id: rs377665947
• ExAC: 6:31918897 A / T
• gnomAD v2: 6-31918897-A-T
• gnomAD v3: 6-31951120-A-T
• gnomAD v4: 6-31951120-A-T
• MyVariant Identifiers: chr6:g.31918897A>T (hg19) ; chr6:g.31951120A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951120A>T , CM000668.2:g.31951120A>T	GRCh38
NC_000006.11:g.31918897A>T , CM000668.1:g.31918897A>T	GRCh37
NC_000006.10:g.32026876A>T	NCBI36
NG_008191.1:g.10177A>T , LRG_136:g.10177A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-77A>T
ENST00000483004.2:c.1640-24A>T	ENSP00000419887.2:n.1640-24A>T
ENST00000698628.1:c.1625-24A>T	ENSP00000513848.1:n.1625-24A>T
ENST00000698629.1:n.2128-77A>T
ENST00000698630.1:n.2572-24A>T
ENST00000698631.1:n.2573-24A>T
ENST00000698632.1:n.3637A>T
ENST00000698633.1:n.3527A>T
ENST00000425368.7:c.1856-24A>T MANE Select	ENSP00000416561.2:n.1856-24A>T
ENST00000425368.6:c.1856-24A>T	ENSP00000416561.2:n.1856-24A>T
ENST00000456570.5:c.3362-24A>T	ENSP00000410815.1:n.3362-24A>T
ENST00000467360.1:n.982-24A>T
ENST00000477310.1:c.2909-24A>T	ENSP00000418996.1:n.2909-24A>T
ENST00000482312.1:n.247A>T
ENST00000483004.1:c.478-24A>T
NM_001710.5:c.1856-24A>T , LRG_136t1:c.1856-24A>T	NP_001701.2:n.1856-24A>T
NM_001710.6:c.1856-24A>T MANE Select	NP_001701.2:n.1856-24A>T