Canonical Allele Identifier: CA363389229

Gene: CFB

Linked Data

• gnomAD v4: 6-31946543-A-G
• MyVariant Identifiers: chr6:g.31914320A>G (hg19) ; chr6:g.31946543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946543A>G , CM000668.2:g.31946543A>G	GRCh38
NC_000006.11:g.31914320A>G , CM000668.1:g.31914320A>G	GRCh37
NC_000006.10:g.32022299A>G	NCBI36
NG_008191.1:g.5600A>G , LRG_136:g.5600A>G
NG_011730.1:g.24055A>G , LRG_26:g.24055A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.412A>G
ENST00000483004.2:c.235A>G	ENSP00000419887.2:p.Thr79Ala
ENST00000497841.6:c.235A>G	ENSP00000513847.1:p.Thr79Ala
ENST00000698628.1:c.235A>G	ENSP00000513848.1:p.Thr79Ala
ENST00000698629.1:n.412A>G
ENST00000698630.1:n.396A>G
ENST00000698631.1:n.391A>G
ENST00000698632.1:n.363A>G
ENST00000698633.1:n.333A>G
ENST00000698636.1:n.457A>G
ENST00000425368.7:c.235A>G MANE Select	ENSP00000416561.2:p.Thr79Ala
ENST00000425368.6:c.235A>G	ENSP00000416561.2:p.Thr79Ala
ENST00000452035.6:n.235A>G
ENST00000456570.5:c.1741A>G	ENSP00000410815.1:p.Thr581Ala
ENST00000460718.5:c.122A>G	ENSP00000417793.1:p.Tyr41Cys
ENST00000472581.1:n.482A>G
ENST00000475617.5:c.235A>G	ENSP00000420090.1:p.Thr79Ala
ENST00000477310.1:c.1352-464A>G	ENSP00000418996.1:n.1352-464A>G
NM_001710.5:c.235A>G , LRG_136t1:c.235A>G	NP_001701.2:p.Thr79Ala
NM_001710.6:c.235A>G MANE Select	NP_001701.2:p.Thr79Ala