Canonical Allele Identifier: CA3933423

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 437771
• ClinVar RCV Id: RCV002524389
• dbSNP Id: rs775291550
• ExAC: 6:99323429 T / C
• gnomAD v2: 6-99323429-T-C
• gnomAD v3: 6-98875553-T-C
• gnomAD v4: 6-98875553-T-C
• MyVariant Identifiers: chr6:g.99323429T>C (hg19) ; chr6:g.98875553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875553T>C , CM000668.2:g.98875553T>C	GRCh38
NC_000006.11:g.99323429T>C , CM000668.1:g.99323429T>C	GRCh37
NC_000006.10:g.99430150T>C	NCBI36
NG_033903.1:g.77454A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369244.7:c.1564A>G MANE Select	ENSP00000358247.1:p.Thr522Ala
ENST00000229971.2:c.1564A>G	ENSP00000229971.1:p.Thr522Ala
ENST00000369244.6:c.1564A>G	ENSP00000358247.1:p.Thr522Ala
NM_001278716.1:c.1564A>G	NP_001265645.1:p.Thr522Ala
NM_012160.4:c.1564A>G	NP_036292.2:p.Thr522Ala
NR_103836.1:n.1609A>G
XM_005266930.1:c.1492A>G	XP_005266987.1:p.Thr498Ala
XM_005266930.3:c.1492A>G	XP_005266987.1:p.Thr498Ala
XM_017010726.1:c.1564A>G	XP_016866215.1:p.Thr522Ala
XM_017010727.2:c.1492A>G	XP_016866216.1:p.Thr498Ala
XM_017010728.1:c.838A>G	XP_016866217.1:p.Thr280Ala
NM_001278716.2:c.1564A>G MANE Select	NP_001265645.1:p.Thr522Ala
NR_103836.2:n.1549A>G
NM_012160.5:c.1564A>G	NP_036292.2:p.Thr522Ala