Canonical Allele Identifier: CA257419
Gene: CFB HGNC NCBI

Linked Data

ClinVar Variation Id: 16080
ClinVar RCV Id: RCV000017460
dbSNP Id: rs121909748
MyVariant Identifiers: chr6:g.31916220A>G (hg19) chr6:g.31948443A>G (hg38)
PubMed: PMID:15661753 PMID:17182750
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31948443A>G , CM000668.2:g.31948443A>G GRCh38
NC_000006.11:g.31916220A>G , CM000668.1:g.31916220A>G GRCh37
NC_000006.10:g.32024199A>G NCBI36
NG_008191.1:g.7500A>G , LRG_136:g.7500A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.1144A>G
ENST00000483004.2:c.967A>G ENSP00000419887.2:p.Lys323Glu
ENST00000497841.6:c.967A>G ENSP00000513847.1:p.Lys323Glu
ENST00000698628.1:c.967A>G ENSP00000513848.1:p.Lys323Glu
ENST00000698629.1:n.1144A>G
ENST00000698630.1:n.1683A>G
ENST00000698631.1:n.1684A>G
ENST00000698632.1:n.2263A>G
ENST00000698633.1:n.2078A>G
ENST00000698636.1:n.1189A>G
ENST00000425368.7:c.967A>G MANE Select ENSP00000416561.2:p.Lys323Glu
ENST00000425368.6:c.967A>G ENSP00000416561.2:p.Lys323Glu
ENST00000452035.6:n.967A>G
ENST00000456570.5:c.2473A>G ENSP00000410815.1:p.Lys825Glu
ENST00000461483.5:n.842A>G
ENST00000465750.5:n.86A>G
ENST00000477310.1:c.2020A>G ENSP00000418996.1:p.Lys674Glu
ENST00000497841.5:n.254A>G
NM_001710.5:c.967A>G , LRG_136t1:c.967A>G NP_001701.2:p.Lys323Glu
NM_001710.6:c.967A>G MANE Select NP_001701.2:p.Lys323Glu
Search 100 bp 5'
Search 100 bp 3'