Canonical Allele Identifier: CA3933442

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 437756
• ClinVar RCV Id: RCV000503327
• dbSNP Id: rs763943212
• ExAC: 6:99323565 G / T
• gnomAD v2: 6-99323565-G-T
• gnomAD v4: 6-98875689-G-T
• MyVariant Identifiers: chr6:g.99323565G>T (hg19) ; chr6:g.98875689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875689G>T , CM000668.2:g.98875689G>T	GRCh38
NC_000006.11:g.99323565G>T , CM000668.1:g.99323565G>T	GRCh37
NC_000006.10:g.99430286G>T	NCBI36
NG_033903.1:g.77318C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1428C>A MANE Select	ENSP00000358247.1:p.Ala476=
ENST00000229971.2:c.1428C>A	ENSP00000229971.1:p.Ala476=
ENST00000369244.6:c.1428C>A	ENSP00000358247.1:p.Ala476=
NM_001278716.1:c.1428C>A	NP_001265645.1:p.Ala476=
NM_012160.4:c.1428C>A	NP_036292.2:p.Ala476=
NR_103836.1:n.1473C>A
XM_005266930.1:c.1356C>A	XP_005266987.1:p.Ala452=
XM_005266930.3:c.1356C>A	XP_005266987.1:p.Ala452=
XM_017010726.1:c.1428C>A	XP_016866215.1:p.Ala476=
XM_017010727.2:c.1356C>A	XP_016866216.1:p.Ala452=
XM_017010728.1:c.702C>A	XP_016866217.1:p.Ala234=
NM_001278716.2:c.1428C>A MANE Select	NP_001265645.1:p.Ala476=
NR_103836.2:n.1413C>A
NM_012160.5:c.1428C>A	NP_036292.2:p.Ala476=