Canonical Allele Identifier: CA16021262

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 1998587
• ClinVar RCV Id: RCV002810564
• MyVariant Identifiers: chr6:g.99323462C>A (hg19) ; chr6:g.98875586C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875586C>A , CM000668.2:g.98875586C>A	GRCh38
NC_000006.11:g.99323462C>A , CM000668.1:g.99323462C>A	GRCh37
NC_000006.10:g.99430183C>A	NCBI36
NG_033903.1:g.77421G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1531G>T MANE Select	ENSP00000358247.1:p.Asp511Tyr
ENST00000229971.2:c.1531G>T	ENSP00000229971.1:p.Asp511Tyr
ENST00000369244.6:c.1531G>T	ENSP00000358247.1:p.Asp511Tyr
NM_001278716.1:c.1531G>T	NP_001265645.1:p.Asp511Tyr
NM_012160.4:c.1531G>T	NP_036292.2:p.Asp511Tyr
NR_103836.1:n.1576G>T
XM_005266930.1:c.1459G>T	XP_005266987.1:p.Asp487Tyr
XM_005266930.3:c.1459G>T	XP_005266987.1:p.Asp487Tyr
XM_017010726.1:c.1531G>T	XP_016866215.1:p.Asp511Tyr
XM_017010727.2:c.1459G>T	XP_016866216.1:p.Asp487Tyr
XM_017010728.1:c.805G>T	XP_016866217.1:p.Asp269Tyr
NM_001278716.2:c.1531G>T MANE Select	NP_001265645.1:p.Asp511Tyr
NR_103836.2:n.1516G>T
NM_012160.5:c.1531G>T	NP_036292.2:p.Asp511Tyr