Canonical Allele Identifier: CA3933439

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 224911
• ClinVar RCV Id: RCV000223958 ; RCV001570260
• dbSNP Id: rs772037717
• ExAC: 6:99323551 A / G
• gnomAD v2: 6-99323551-A-G
• gnomAD v3: 6-98875675-A-G
• gnomAD v4: 6-98875675-A-G
• MyVariant Identifiers: chr6:g.99323551A>G (hg19) ; chr6:g.98875675A>G (hg38)
• PubMed: PMID:27182039 ; PMID:27182309

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875675A>G , CM000668.2:g.98875675A>G	GRCh38
NC_000006.11:g.99323551A>G , CM000668.1:g.99323551A>G	GRCh37
NC_000006.10:g.99430272A>G	NCBI36
NG_033903.1:g.77332T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1442T>C MANE Select	ENSP00000358247.1:p.Leu481Pro
ENST00000229971.2:c.1442T>C	ENSP00000229971.1:p.Leu481Pro
ENST00000369244.6:c.1442T>C	ENSP00000358247.1:p.Leu481Pro
NM_001278716.1:c.1442T>C	NP_001265645.1:p.Leu481Pro
NM_012160.4:c.1442T>C	NP_036292.2:p.Leu481Pro
NR_103836.1:n.1487T>C
XM_005266930.1:c.1370T>C	XP_005266987.1:p.Leu457Pro
XM_005266930.3:c.1370T>C	XP_005266987.1:p.Leu457Pro
XM_017010726.1:c.1442T>C	XP_016866215.1:p.Leu481Pro
XM_017010727.2:c.1370T>C	XP_016866216.1:p.Leu457Pro
XM_017010728.1:c.716T>C	XP_016866217.1:p.Leu239Pro
NM_001278716.2:c.1442T>C MANE Select	NP_001265645.1:p.Leu481Pro
NR_103836.2:n.1427T>C
NM_012160.5:c.1442T>C	NP_036292.2:p.Leu481Pro