Canonical Allele Identifier: CA2711462398
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs2151787316

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950829G>A , CM000668.2:g.31950829G>A GRCh38
NC_000006.11:g.31918606G>A , CM000668.1:g.31918606G>A GRCh37
NC_000006.10:g.32026585G>A NCBI36
NG_008191.1:g.9886G>A , LRG_136:g.9886G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2227G>A
ENST00000483004.2:c.1563-39G>A ENSP00000419887.2:n.1563-39G>A
ENST00000698628.1:c.1625-315G>A ENSP00000513848.1:n.1625-315G>A
ENST00000698629.1:n.2012G>A
ENST00000698630.1:n.2495-39G>A
ENST00000698631.1:n.2496-39G>A
ENST00000698632.1:n.3346G>A
ENST00000698633.1:n.3236G>A
ENST00000425368.7:c.1779-39G>A MANE Select ENSP00000416561.2:n.1779-39G>A
ENST00000425368.6:c.1779-39G>A ENSP00000416561.2:n.1779-39G>A
ENST00000456570.5:c.3285-39G>A ENSP00000410815.1:n.3285-39G>A
ENST00000467360.1:n.905-39G>A
ENST00000477310.1:c.2832-39G>A ENSP00000418996.1:n.2832-39G>A
ENST00000483004.1:c.401-39G>A
NM_001710.5:c.1779-39G>A , LRG_136t1:c.1779-39G>A NP_001701.2:n.1779-39G>A
NM_001710.6:c.1779-39G>A MANE Select NP_001701.2:n.1779-39G>A