Canonical Allele Identifier: CA3728478

Gene: CFB

Linked Data

• dbSNP Id: rs749107211
• ExAC: 6:31918896 G / GA
• gnomAD v2: 6-31918896-G-GA
• gnomAD v3: 6-31951119-G-GA
• gnomAD v4: 6-31951119-G-GA
• MyVariant Identifiers: chr6:g.31918896_31918897insA (hg19) ; chr6:g.31951119_31951120insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951121dup , CM000668.2:g.31951121dup	GRCh38
NC_000006.11:g.31918898dup , CM000668.1:g.31918898dup	GRCh37
NC_000006.10:g.32026877dup	NCBI36
NG_008191.1:g.10178dup , LRG_136:g.10178dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-76dup
ENST00000483004.2:c.1640-23dup	ENSP00000419887.2:n.1640-23dup
ENST00000698628.1:c.1625-23dup	ENSP00000513848.1:n.1625-23dup
ENST00000698629.1:n.2128-76dup
ENST00000698630.1:n.2572-23dup
ENST00000698631.1:n.2573-23dup
ENST00000698632.1:n.3638dup
ENST00000698633.1:n.3528dup
ENST00000425368.7:c.1856-23dup MANE Select	ENSP00000416561.2:n.1856-23dup
ENST00000425368.6:c.1856-23dup	ENSP00000416561.2:n.1856-23dup
ENST00000456570.5:c.3362-23dup	ENSP00000410815.1:n.3362-23dup
ENST00000467360.1:n.982-23dup
ENST00000477310.1:c.2909-23dup	ENSP00000418996.1:n.2909-23dup
ENST00000482312.1:n.248dup
ENST00000483004.1:c.478-23dup
NM_001710.5:c.1856-23dup , LRG_136t1:c.1856-23dup	NP_001701.2:n.1856-23dup
NM_001710.6:c.1856-23dup MANE Select	NP_001701.2:n.1856-23dup