Canonical Allele Identifier: CA365087128

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 917533
• ClinVar RCV Id: RCV001174538
• dbSNP Id: rs1770631410
• MyVariant Identifiers: chr6:g.99323455C>A (hg19) ; chr6:g.98875579C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875579C>A , CM000668.2:g.98875579C>A	GRCh38
NC_000006.11:g.99323455C>A , CM000668.1:g.99323455C>A	GRCh37
NC_000006.10:g.99430176C>A	NCBI36
NG_033903.1:g.77428G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1538G>T MANE Select	ENSP00000358247.1:p.Gly513Val
ENST00000229971.2:c.1538G>T	ENSP00000229971.1:p.Gly513Val
ENST00000369244.6:c.1538G>T	ENSP00000358247.1:p.Gly513Val
NM_001278716.1:c.1538G>T	NP_001265645.1:p.Gly513Val
NM_012160.4:c.1538G>T	NP_036292.2:p.Gly513Val
NR_103836.1:n.1583G>T
XM_005266930.1:c.1466G>T	XP_005266987.1:p.Gly489Val
XM_005266930.3:c.1466G>T	XP_005266987.1:p.Gly489Val
XM_017010726.1:c.1538G>T	XP_016866215.1:p.Gly513Val
XM_017010727.2:c.1466G>T	XP_016866216.1:p.Gly489Val
XM_017010728.1:c.812G>T	XP_016866217.1:p.Gly271Val
NM_001278716.2:c.1538G>T MANE Select	NP_001265645.1:p.Gly513Val
NR_103836.2:n.1523G>T
NM_012160.5:c.1538G>T	NP_036292.2:p.Gly513Val