Canonical Allele Identifier: CA3933431

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 437764
• ClinVar RCV Id: RCV000503257 ; RCV003766864
• dbSNP Id: rs556881504
• ExAC: 6:99323475 T / C
• gnomAD v2: 6-99323475-T-C
• gnomAD v3: 6-98875599-T-C
• gnomAD v4: 6-98875599-T-C
• MyVariant Identifiers: chr6:g.99323475T>C (hg19) ; chr6:g.98875599T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875599T>C , CM000668.2:g.98875599T>C	GRCh38
NC_000006.11:g.99323475T>C , CM000668.1:g.99323475T>C	GRCh37
NC_000006.10:g.99430196T>C	NCBI36
NG_033903.1:g.77408A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1518A>G MANE Select	ENSP00000358247.1:p.Leu506=
ENST00000229971.2:c.1518A>G	ENSP00000229971.1:p.Leu506=
ENST00000369244.6:c.1518A>G	ENSP00000358247.1:p.Leu506=
NM_001278716.1:c.1518A>G	NP_001265645.1:p.Leu506=
NM_012160.4:c.1518A>G	NP_036292.2:p.Leu506=
NR_103836.1:n.1563A>G
XM_005266930.1:c.1446A>G	XP_005266987.1:p.Leu482=
XM_005266930.3:c.1446A>G	XP_005266987.1:p.Leu482=
XM_017010726.1:c.1518A>G	XP_016866215.1:p.Leu506=
XM_017010727.2:c.1446A>G	XP_016866216.1:p.Leu482=
XM_017010728.1:c.792A>G	XP_016866217.1:p.Leu264=
NM_001278716.2:c.1518A>G MANE Select	NP_001265645.1:p.Leu506=
NR_103836.2:n.1503A>G
NM_012160.5:c.1518A>G	NP_036292.2:p.Leu506=