Canonical Allele Identifier: CA3728393

Gene: CFB

Linked Data

• dbSNP Id: rs763806226
• ExAC: 6:31918277 G / GC
• gnomAD v2: 6-31918277-G-GC
• gnomAD v4: 6-31950500-G-GC
• MyVariant Identifiers: chr6:g.31918277_31918278insC (hg19) ; chr6:g.31950500_31950501insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950504dup , CM000668.2:g.31950504dup	GRCh38
NC_000006.11:g.31918281dup , CM000668.1:g.31918281dup	GRCh37
NC_000006.10:g.32026260dup	NCBI36
NG_008191.1:g.9561dup , LRG_136:g.9561dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1902dup
ENST00000483004.2:c.1409-115dup	ENSP00000419887.2:n.1409-115dup
ENST00000698628.1:c.1624+101dup	ENSP00000513848.1:n.1624+101dup
ENST00000698629.1:n.1801+101dup
ENST00000698630.1:n.2340+101dup
ENST00000698631.1:n.2341+101dup
ENST00000698632.1:n.3021dup
ENST00000698633.1:n.2911dup
ENST00000698636.1:n.1846+101dup
ENST00000425368.7:c.1624+101dup MANE Select	ENSP00000416561.2:n.1624+101dup
ENST00000425368.6:c.1624+101dup	ENSP00000416561.2:n.1624+101dup
ENST00000452035.6:n.1725dup
ENST00000456570.5:c.3130+101dup	ENSP00000410815.1:n.3130+101dup
ENST00000467360.1:n.636dup
ENST00000477310.1:c.2677+101dup	ENSP00000418996.1:n.2677+101dup
ENST00000483004.1:c.247-115dup
NM_001710.5:c.1624+101dup , LRG_136t1:c.1624+101dup	NP_001701.2:n.1624+101dup
NM_001710.6:c.1624+101dup MANE Select	NP_001701.2:n.1624+101dup