Canonical Allele Identifier: CA566692895

Gene: CFB

Linked Data

• dbSNP Id: rs1396040296
• gnomAD v2: 6-31918295-C-A
• gnomAD v4: 6-31950518-C-A
• MyVariant Identifiers: chr6:g.31918295C>A (hg19) ; chr6:g.31950518C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950518C>A , CM000668.2:g.31950518C>A	GRCh38
NC_000006.11:g.31918295C>A , CM000668.1:g.31918295C>A	GRCh37
NC_000006.10:g.32026274C>A	NCBI36
NG_008191.1:g.9575C>A , LRG_136:g.9575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1916C>A
ENST00000483004.2:c.1409-101C>A	ENSP00000419887.2:n.1409-101C>A
ENST00000698628.1:c.1624+115C>A	ENSP00000513848.1:n.1624+115C>A
ENST00000698629.1:n.1802-101C>A
ENST00000698630.1:n.2341-101C>A
ENST00000698631.1:n.2342-101C>A
ENST00000698632.1:n.3035C>A
ENST00000698633.1:n.2925C>A
ENST00000698636.1:n.1847-101C>A
ENST00000425368.7:c.1625-101C>A MANE Select	ENSP00000416561.2:n.1625-101C>A
ENST00000425368.6:c.1625-101C>A	ENSP00000416561.2:n.1625-101C>A
ENST00000452035.6:n.1739C>A
ENST00000456570.5:c.3131-101C>A	ENSP00000410815.1:n.3131-101C>A
ENST00000467360.1:n.650C>A
ENST00000477310.1:c.2678-101C>A	ENSP00000418996.1:n.2678-101C>A
ENST00000483004.1:c.247-101C>A
NM_001710.5:c.1625-101C>A , LRG_136t1:c.1625-101C>A	NP_001701.2:n.1625-101C>A
NM_001710.6:c.1625-101C>A MANE Select	NP_001701.2:n.1625-101C>A