Canonical Allele Identifier: CA365087348

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 2859193
• ClinVar RCV Id: RCV003701721
• MyVariant Identifiers: chr6:g.99323491G>T (hg19) ; chr6:g.98875615G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875615G>T , CM000668.2:g.98875615G>T	GRCh38
NC_000006.11:g.99323491G>T , CM000668.1:g.99323491G>T	GRCh37
NC_000006.10:g.99430212G>T	NCBI36
NG_033903.1:g.77392C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1502C>A MANE Select	ENSP00000358247.1:p.Ala501Asp
ENST00000229971.2:c.1502C>A	ENSP00000229971.1:p.Ala501Asp
ENST00000369244.6:c.1502C>A	ENSP00000358247.1:p.Ala501Asp
NM_001278716.1:c.1502C>A	NP_001265645.1:p.Ala501Asp
NM_012160.4:c.1502C>A	NP_036292.2:p.Ala501Asp
NR_103836.1:n.1547C>A
XM_005266930.1:c.1430C>A	XP_005266987.1:p.Ala477Asp
XM_005266930.3:c.1430C>A	XP_005266987.1:p.Ala477Asp
XM_017010726.1:c.1502C>A	XP_016866215.1:p.Ala501Asp
XM_017010727.2:c.1430C>A	XP_016866216.1:p.Ala477Asp
XM_017010728.1:c.776C>A	XP_016866217.1:p.Ala259Asp
NM_001278716.2:c.1502C>A MANE Select	NP_001265645.1:p.Ala501Asp
NR_103836.2:n.1487C>A
NM_012160.5:c.1502C>A	NP_036292.2:p.Ala501Asp