Canonical Allele Identifier: CA3933444

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 437754
• ClinVar RCV Id: RCV000500444 ; RCV002524386
• dbSNP Id: rs761551398
• ExAC: 6:99323593 T / C
• gnomAD v2: 6-99323593-T-C
• gnomAD v3: 6-98875717-T-C
• gnomAD v4: 6-98875717-T-C
• MyVariant Identifiers: chr6:g.99323593T>C (hg19) ; chr6:g.98875717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875717T>C , CM000668.2:g.98875717T>C	GRCh38
NC_000006.11:g.99323593T>C , CM000668.1:g.99323593T>C	GRCh37
NC_000006.10:g.99430314T>C	NCBI36
NG_033903.1:g.77290A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1400A>G MANE Select	ENSP00000358247.1:p.Tyr467Cys
ENST00000229971.2:c.1400A>G	ENSP00000229971.1:p.Tyr467Cys
ENST00000369244.6:c.1400A>G	ENSP00000358247.1:p.Tyr467Cys
NM_001278716.1:c.1400A>G	NP_001265645.1:p.Tyr467Cys
NM_012160.4:c.1400A>G	NP_036292.2:p.Tyr467Cys
NR_103836.1:n.1445A>G
XM_005266930.1:c.1328A>G	XP_005266987.1:p.Tyr443Cys
XM_005266930.3:c.1328A>G	XP_005266987.1:p.Tyr443Cys
XM_017010726.1:c.1400A>G	XP_016866215.1:p.Tyr467Cys
XM_017010727.2:c.1328A>G	XP_016866216.1:p.Tyr443Cys
XM_017010728.1:c.674A>G	XP_016866217.1:p.Tyr225Cys
NM_001278716.2:c.1400A>G MANE Select	NP_001265645.1:p.Tyr467Cys
NR_103836.2:n.1385A>G
NM_012160.5:c.1400A>G	NP_036292.2:p.Tyr467Cys