Canonical Allele Identifier: CA16020684

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 375387
• ClinVar RCV Id: RCV000416414 ; RCV002521494
• dbSNP Id: rs1057519447
• gnomAD v2: 6-99374446-A-G
• gnomAD v3: 6-98926570-A-G
• gnomAD v4: 6-98926570-A-G
• MyVariant Identifiers: chr6:g.99374446A>G (hg19) ; chr6:g.98926570A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98926570A>G , CM000668.2:g.98926570A>G	GRCh38
NC_000006.11:g.99374446A>G , CM000668.1:g.99374446A>G	GRCh37
NC_000006.10:g.99481167A>G	NCBI36
NG_033903.1:g.26437T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.419T>C MANE Select	ENSP00000358247.1:p.Val140Ala
ENST00000229971.2:c.419T>C	ENSP00000229971.1:p.Val140Ala
ENST00000369244.6:c.419T>C	ENSP00000358247.1:p.Val140Ala
NM_001278716.1:c.419T>C	NP_001265645.1:p.Val140Ala
NM_012160.4:c.419T>C	NP_036292.2:p.Val140Ala
NR_103836.1:n.810T>C
NR_103837.1:n.810T>C
XM_005266930.1:c.419T>C	XP_005266987.1:p.Val140Ala
XM_011535748.1:c.419T>C	XP_011534050.1:p.Val140Ala
XM_005266930.3:c.419T>C	XP_005266987.1:p.Val140Ala
XM_011535748.3:c.419T>C	XP_011534050.1:p.Val140Ala
XM_017010726.1:c.419T>C	XP_016866215.1:p.Val140Ala
XM_017010727.2:c.419T>C	XP_016866216.1:p.Val140Ala
XM_017010728.1:c.-384T>C	XP_016866217.1:n.-384T>C
NM_001278716.2:c.419T>C MANE Select	NP_001265645.1:p.Val140Ala
NR_103836.2:n.750T>C
NR_103837.2:n.750T>C
NM_012160.5:c.419T>C	NP_036292.2:p.Val140Ala