Canonical Allele Identifier: CA144883

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 66090
• ClinVar RCV Id: RCV000056327 ; RCV001090674
• dbSNP Id: rs398123059
• MyVariant Identifiers: chr6:g.99323438G>A (hg19) ; chr6:g.98875562G>A (hg38)
• PubMed: PMID:23993193 ; PMID:25868664

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875562G>A , CM000668.2:g.98875562G>A	GRCh38
NC_000006.11:g.99323438G>A , CM000668.1:g.99323438G>A	GRCh37
NC_000006.10:g.99430159G>A	NCBI36
NG_033903.1:g.77445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1555C>T MANE Select	ENSP00000358247.1:p.Gln519Ter
ENST00000229971.2:c.1555C>T	ENSP00000229971.1:p.Gln519Ter
ENST00000369244.6:c.1555C>T	ENSP00000358247.1:p.Gln519Ter
NM_001278716.1:c.1555C>T	NP_001265645.1:p.Gln519Ter
NM_012160.4:c.1555C>T	NP_036292.2:p.Gln519Ter
NR_103836.1:n.1600C>T
XM_005266930.1:c.1483C>T	XP_005266987.1:p.Gln495Ter
XM_005266930.3:c.1483C>T	XP_005266987.1:p.Gln495Ter
XM_017010726.1:c.1555C>T	XP_016866215.1:p.Gln519Ter
XM_017010727.2:c.1483C>T	XP_016866216.1:p.Gln495Ter
XM_017010728.1:c.829C>T	XP_016866217.1:p.Gln277Ter
NM_001278716.2:c.1555C>T MANE Select	NP_001265645.1:p.Gln519Ter
NR_103836.2:n.1540C>T
NM_012160.5:c.1555C>T	NP_036292.2:p.Gln519Ter