Canonical Allele Identifier: CA823922983

Gene: CFB

Linked Data

• dbSNP Id: rs1211736755
• gnomAD v3: 6-31950811-G-A
• gnomAD v4: 6-31950811-G-A
• MyVariant Identifiers: chr6:g.31918588G>A (hg19) ; chr6:g.31950811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950811G>A , CM000668.2:g.31950811G>A	GRCh38
NC_000006.11:g.31918588G>A , CM000668.1:g.31918588G>A	GRCh37
NC_000006.10:g.32026567G>A	NCBI36
NG_008191.1:g.9868G>A , LRG_136:g.9868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2209G>A
ENST00000483004.2:c.1562+39G>A	ENSP00000419887.2:n.1562+39G>A
ENST00000698628.1:c.1625-333G>A	ENSP00000513848.1:n.1625-333G>A
ENST00000698629.1:n.1994G>A
ENST00000698630.1:n.2494+39G>A
ENST00000698631.1:n.2495+39G>A
ENST00000698632.1:n.3328G>A
ENST00000698633.1:n.3218G>A
ENST00000425368.7:c.1778+39G>A MANE Select	ENSP00000416561.2:n.1778+39G>A
ENST00000425368.6:c.1778+39G>A	ENSP00000416561.2:n.1778+39G>A
ENST00000456570.5:c.3284+39G>A	ENSP00000410815.1:n.3284+39G>A
ENST00000467360.1:n.904+39G>A
ENST00000477310.1:c.2831+39G>A	ENSP00000418996.1:n.2831+39G>A
ENST00000483004.1:c.400+39G>A
NM_001710.5:c.1778+39G>A , LRG_136t1:c.1778+39G>A	NP_001701.2:n.1778+39G>A
NM_001710.6:c.1778+39G>A MANE Select	NP_001701.2:n.1778+39G>A