Canonical Allele Identifier: CA451364908
Gene: FBXL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2023214
ClinVar RCV Id: RCV002857782
MyVariant Identifiers: chr6:g.99322316T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98874440T>C , CM000668.2:g.98874440T>C GRCh38
NC_000006.11:g.99322316T>C , CM000668.1:g.99322316T>C GRCh37
NC_000006.10:g.99429037T>C NCBI36
NG_033903.1:g.78567A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1704A>G MANE Select ENSP00000358247.1:p.Gly568=
ENST00000229971.2:c.1704A>G ENSP00000229971.1:p.Gly568=
ENST00000369244.6:c.1704A>G ENSP00000358247.1:p.Gly568=
NM_001278716.1:c.1704A>G NP_001265645.1:p.Gly568=
NM_012160.4:c.1704A>G NP_036292.2:p.Gly568=
NR_103836.1:n.1749A>G
XM_005266930.1:c.1632A>G XP_005266987.1:p.Gly544=
XM_005266930.3:c.1632A>G XP_005266987.1:p.Gly544=
XM_017010726.1:c.1704A>G XP_016866215.1:p.Gly568=
XM_017010727.2:c.1632A>G XP_016866216.1:p.Gly544=
XM_017010728.1:c.978A>G XP_016866217.1:p.Gly326=
NM_001278716.2:c.1704A>G MANE Select NP_001265645.1:p.Gly568=
NR_103836.2:n.1689A>G
NM_012160.5:c.1704A>G NP_036292.2:p.Gly568=