Canonical Allele Identifier: CA3933705

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 437563
• ClinVar RCV Id: RCV000502936
• dbSNP Id: rs763115531
• ExAC: 6:99374515 G / A
• gnomAD v2: 6-99374515-G-A
• gnomAD v3: 6-98926639-G-A
• gnomAD v4: 6-98926639-G-A
• COSMIC: COSM1082778
• MyVariant Identifiers: chr6:g.99374515G>A (hg19) ; chr6:g.98926639G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98926639G>A , CM000668.2:g.98926639G>A	GRCh38
NC_000006.11:g.99374515G>A , CM000668.1:g.99374515G>A	GRCh37
NC_000006.10:g.99481236G>A	NCBI36
NG_033903.1:g.26368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.350C>T MANE Select	ENSP00000358247.1:p.Thr117Met
ENST00000229971.2:c.350C>T	ENSP00000229971.1:p.Thr117Met
ENST00000369244.6:c.350C>T	ENSP00000358247.1:p.Thr117Met
NM_001278716.1:c.350C>T	NP_001265645.1:p.Thr117Met
NM_012160.4:c.350C>T	NP_036292.2:p.Thr117Met
NR_103836.1:n.741C>T
NR_103837.1:n.741C>T
XM_005266930.1:c.350C>T	XP_005266987.1:p.Thr117Met
XM_011535748.1:c.350C>T	XP_011534050.1:p.Thr117Met
XM_005266930.3:c.350C>T	XP_005266987.1:p.Thr117Met
XM_011535748.3:c.350C>T	XP_011534050.1:p.Thr117Met
XM_017010726.1:c.350C>T	XP_016866215.1:p.Thr117Met
XM_017010727.2:c.350C>T	XP_016866216.1:p.Thr117Met
XM_017010728.1:c.-453C>T	XP_016866217.1:n.-453C>T
NM_001278716.2:c.350C>T MANE Select	NP_001265645.1:p.Thr117Met
NR_103836.2:n.681C>T
NR_103837.2:n.681C>T
NM_012160.5:c.350C>T	NP_036292.2:p.Thr117Met