Canonical Allele Identifier: CA143896347

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 802252
• ClinVar RCV Id: RCV000987754 ; RCV002549686
• dbSNP Id: rs995995791
• gnomAD v4: 6-98875444-C-T
• MyVariant Identifiers: chr6:g.99323320C>T (hg19) ; chr6:g.98875444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875444C>T , CM000668.2:g.98875444C>T	GRCh38
NC_000006.11:g.99323320C>T , CM000668.1:g.99323320C>T	GRCh37
NC_000006.10:g.99430041C>T	NCBI36
NG_033903.1:g.77563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1673G>A MANE Select	ENSP00000358247.1:p.Cys558Tyr
ENST00000229971.2:c.1673G>A	ENSP00000229971.1:p.Cys558Tyr
ENST00000369244.6:c.1673G>A	ENSP00000358247.1:p.Cys558Tyr
NM_001278716.1:c.1673G>A	NP_001265645.1:p.Cys558Tyr
NM_012160.4:c.1673G>A	NP_036292.2:p.Cys558Tyr
NR_103836.1:n.1718G>A
XM_005266930.1:c.1601G>A	XP_005266987.1:p.Cys534Tyr
XM_005266930.3:c.1601G>A	XP_005266987.1:p.Cys534Tyr
XM_017010726.1:c.1673G>A	XP_016866215.1:p.Cys558Tyr
XM_017010727.2:c.1601G>A	XP_016866216.1:p.Cys534Tyr
XM_017010728.1:c.947G>A	XP_016866217.1:p.Cys316Tyr
NM_001278716.2:c.1673G>A MANE Select	NP_001265645.1:p.Cys558Tyr
NR_103836.2:n.1658G>A
NM_012160.5:c.1673G>A	NP_036292.2:p.Cys558Tyr