Canonical Allele Identifier: CA3933333

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 381422
• ClinVar RCV Id: RCV000437510 ; RCV000500004
• dbSNP Id: rs115180578
• ExAC: 6:99322151 A / G
• gnomAD v2: 6-99322151-A-G
• gnomAD v3: 6-98874275-A-G
• gnomAD v4: 6-98874275-A-G
• MyVariant Identifiers: chr6:g.99322151A>G (hg19) ; chr6:g.98874275A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98874275A>G , CM000668.2:g.98874275A>G	GRCh38
NC_000006.11:g.99322151A>G , CM000668.1:g.99322151A>G	GRCh37
NC_000006.10:g.99428872A>G	NCBI36
NG_033903.1:g.78732T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.*3T>C MANE Select	ENSP00000358247.1:n.*3T>C
ENST00000229971.2:c.*3T>C	ENSP00000229971.1:n.*3T>C
ENST00000369244.6:c.*3T>C	ENSP00000358247.1:n.*3T>C
NM_001278716.1:c.*3T>C	NP_001265645.1:n.*3T>C
NM_012160.4:c.*3T>C	NP_036292.2:n.*3T>C
NR_103836.1:n.1914T>C
XM_005266930.1:c.*3T>C	XP_005266987.1:n.*3T>C
XM_005266930.3:c.*3T>C	XP_005266987.1:n.*3T>C
XM_017010726.1:c.*3T>C	XP_016866215.1:n.*3T>C
XM_017010727.2:c.*3T>C	XP_016866216.1:n.*3T>C
XM_017010728.1:c.*3T>C	XP_016866217.1:n.*3T>C
NM_001278716.2:c.*3T>C MANE Select	NP_001265645.1:n.*3T>C
NR_103836.2:n.1854T>C
NM_012160.5:c.*3T>C	NP_036292.2:n.*3T>C