Canonical Allele Identifier: CA449812173

Gene: CFB

Linked Data

• dbSNP Id: rs1174484026
• gnomAD v2: 6-31918514-G-A
• gnomAD v3: 6-31950737-G-A
• gnomAD v4: 6-31950737-G-A
• MyVariant Identifiers: chr6:g.31918514G>A (hg19) ; chr6:g.31950737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950737G>A , CM000668.2:g.31950737G>A	GRCh38
NC_000006.11:g.31918514G>A , CM000668.1:g.31918514G>A	GRCh37
NC_000006.10:g.32026493G>A	NCBI36
NG_008191.1:g.9794G>A , LRG_136:g.9794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2135G>A
ENST00000483004.2:c.1527G>A	ENSP00000419887.2:p.Lys509=
ENST00000698628.1:c.1624+334G>A	ENSP00000513848.1:n.1624+334G>A
ENST00000698629.1:n.1920G>A
ENST00000698630.1:n.2459G>A
ENST00000698631.1:n.2460G>A
ENST00000698632.1:n.3254G>A
ENST00000698633.1:n.3144G>A
ENST00000698636.1:n.1965G>A
ENST00000425368.7:c.1743G>A MANE Select	ENSP00000416561.2:p.Lys581=
ENST00000425368.6:c.1743G>A	ENSP00000416561.2:p.Lys581=
ENST00000456570.5:c.3249G>A	ENSP00000410815.1:p.Lys1083=
ENST00000467360.1:n.869G>A
ENST00000477310.1:c.2796G>A	ENSP00000418996.1:p.Lys932=
ENST00000483004.1:c.365G>A
NM_001710.5:c.1743G>A , LRG_136t1:c.1743G>A	NP_001701.2:p.Lys581=
NM_001710.6:c.1743G>A MANE Select	NP_001701.2:p.Lys581=