Canonical Allele Identifier: CA144893

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 66094
• ClinVar RCV Id: RCV000056331
• dbSNP Id: rs398123062
• gnomAD v4: 6-98875423-T-C
• MyVariant Identifiers: chr6:g.99323299T>C (hg19) ; chr6:g.98875423T>C (hg38)
• PubMed: PMID:23993194

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875423T>C , CM000668.2:g.98875423T>C	GRCh38
NC_000006.11:g.99323299T>C , CM000668.1:g.99323299T>C	GRCh37
NC_000006.10:g.99430020T>C	NCBI36
NG_033903.1:g.77584A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1694A>G MANE Select	ENSP00000358247.1:p.Asp565Gly
ENST00000229971.2:c.1694A>G	ENSP00000229971.1:p.Asp565Gly
ENST00000369244.6:c.1694A>G	ENSP00000358247.1:p.Asp565Gly
NM_001278716.1:c.1694A>G	NP_001265645.1:p.Asp565Gly
NM_012160.4:c.1694A>G	NP_036292.2:p.Asp565Gly
NR_103836.1:n.1739A>G
XM_005266930.1:c.1622A>G	XP_005266987.1:p.Asp541Gly
XM_005266930.3:c.1622A>G	XP_005266987.1:p.Asp541Gly
XM_017010726.1:c.1694A>G	XP_016866215.1:p.Asp565Gly
XM_017010727.2:c.1622A>G	XP_016866216.1:p.Asp541Gly
XM_017010728.1:c.968A>G	XP_016866217.1:p.Asp323Gly
NM_001278716.2:c.1694A>G MANE Select	NP_001265645.1:p.Asp565Gly
NR_103836.2:n.1679A>G
NM_012160.5:c.1694A>G	NP_036292.2:p.Asp565Gly