Canonical Allele Identifier: CA365084612

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 2486760
• ClinVar RCV Id: RCV003215057
• gnomAD v4: 6-98874307-C-G
• MyVariant Identifiers: chr6:g.99322183C>G (hg19) ; chr6:g.98874307C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98874307C>G , CM000668.2:g.98874307C>G	GRCh38
NC_000006.11:g.99322183C>G , CM000668.1:g.99322183C>G	GRCh37
NC_000006.10:g.99428904C>G	NCBI36
NG_033903.1:g.78700G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1837G>C MANE Select	ENSP00000358247.1:p.Val613Leu
ENST00000229971.2:c.1837G>C	ENSP00000229971.1:p.Val613Leu
ENST00000369244.6:c.1837G>C	ENSP00000358247.1:p.Val613Leu
NM_001278716.1:c.1837G>C	NP_001265645.1:p.Val613Leu
NM_012160.4:c.1837G>C	NP_036292.2:p.Val613Leu
NR_103836.1:n.1882G>C
XM_005266930.1:c.1765G>C	XP_005266987.1:p.Val589Leu
XM_005266930.3:c.1765G>C	XP_005266987.1:p.Val589Leu
XM_017010726.1:c.1837G>C	XP_016866215.1:p.Val613Leu
XM_017010727.2:c.1765G>C	XP_016866216.1:p.Val589Leu
XM_017010728.1:c.1111G>C	XP_016866217.1:p.Val371Leu
NM_001278716.2:c.1837G>C MANE Select	NP_001265645.1:p.Val613Leu
NR_103836.2:n.1822G>C
NM_012160.5:c.1837G>C	NP_036292.2:p.Val613Leu