Canonical Allele Identifier: CA3728432
Gene: CFB HGNC NCBI

Linked Data

ClinVar Variation Id: 356292
dbSNP Id: rs4151659

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950687A>G , CM000668.2:g.31950687A>G GRCh38
NC_000006.11:g.31918464A>G , CM000668.1:g.31918464A>G GRCh37
NC_000006.10:g.32026443A>G NCBI36
NG_008191.1:g.9744A>G , LRG_136:g.9744A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000425368.7:c.1693A>G MANE Select ENSP00000416561.2:p.Lys565Glu
ENST00000425368.6:c.1693A>G ENSP00000416561.2:p.Lys565Glu
ENST00000456570.5:c.3199A>G ENSP00000410815.1:p.Lys1067Glu
ENST00000467360.1:n.819A>G
ENST00000477310.1:c.2746A>G ENSP00000418996.1:p.Lys916Glu
ENST00000483004.1:n.315A>G
NM_001710.5:c.1693A>G , LRG_136t1:c.1693A>G NP_001701.2:p.Lys565Glu
NM_001710.6:c.1693A>G MANE Select NP_001701.2:p.Lys565Glu