Canonical Allele Identifier: CA12187930
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs2072633

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951801A>G , CM000668.2:g.31951801A>G GRCh38
NC_000006.11:g.31919578A>G , CM000668.1:g.31919578A>G GRCh37
NC_000006.10:g.32027557A>G NCBI36
NG_008191.1:g.10858A>G , LRG_136:g.10858A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000425368.7:c.2140-74A>G MANE Select ENSP00000416561.2:p.=
ENST00000425368.6:c.2140-74A>G ENSP00000416561.2:p.=
ENST00000456570.5:c.3646-74A>G ENSP00000410815.1:p.=
ENST00000477310.1:c.3193-74A>G ENSP00000418996.1:p.=
ENST00000482312.1:n.555-74A>G
ENST00000483004.1:n.762-74A>G
ENST00000498317.1:n.306A>G
NM_001710.5:c.2140-74A>G , LRG_136t1:c.2140-74A>G NP_001701.2:p.=
NM_001710.6:c.2140-74A>G MANE Select NP_001701.2:p.=