Canonical Allele Identifier: CA144889
Gene: FBXL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 66092
ClinVar RCV Id: RCV000056329
dbSNP Id: rs398123060
gnomAD v4: 6-98874441-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98874441C>G , CM000668.2:g.98874441C>G GRCh38
NC_000006.11:g.99322317C>G , CM000668.1:g.99322317C>G GRCh37
NC_000006.10:g.99429038C>G NCBI36
NG_033903.1:g.78566G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1703G>C MANE Select ENSP00000358247.1:p.Gly568Ala
ENST00000229971.2:c.1703G>C ENSP00000229971.1:p.Gly568Ala
ENST00000369244.6:c.1703G>C ENSP00000358247.1:p.Gly568Ala
NM_001278716.1:c.1703G>C NP_001265645.1:p.Gly568Ala
NM_012160.4:c.1703G>C NP_036292.2:p.Gly568Ala
NR_103836.1:n.1748G>C
XM_005266930.1:c.1631G>C XP_005266987.1:p.Gly544Ala
XM_005266930.3:c.1631G>C XP_005266987.1:p.Gly544Ala
XM_017010726.1:c.1703G>C XP_016866215.1:p.Gly568Ala
XM_017010727.2:c.1631G>C XP_016866216.1:p.Gly544Ala
XM_017010728.1:c.977G>C XP_016866217.1:p.Gly326Ala
NM_001278716.2:c.1703G>C MANE Select NP_001265645.1:p.Gly568Ala
NR_103836.2:n.1688G>C
NM_012160.5:c.1703G>C NP_036292.2:p.Gly568Ala