Canonical Allele Identifier: CA3933695
Gene: FBXL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 437572
ClinVar RCV Id: RCV000500135
dbSNP Id: rs778315780
gnomAD v2: 6-99374460-C-G
gnomAD v3: 6-98926584-C-G
gnomAD v4: 6-98926584-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98926584C>G , CM000668.2:g.98926584C>G GRCh38
NC_000006.11:g.99374460C>G , CM000668.1:g.99374460C>G GRCh37
NC_000006.10:g.99481181C>G NCBI36
NG_033903.1:g.26423G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.405G>C MANE Select ENSP00000358247.1:p.Val135=
ENST00000229971.2:c.405G>C ENSP00000229971.1:p.Val135=
ENST00000369244.6:c.405G>C ENSP00000358247.1:p.Val135=
NM_001278716.1:c.405G>C NP_001265645.1:p.Val135=
NM_012160.4:c.405G>C NP_036292.2:p.Val135=
NR_103836.1:n.796G>C
NR_103837.1:n.796G>C
XM_005266930.1:c.405G>C XP_005266987.1:p.Val135=
XM_011535748.1:c.405G>C XP_011534050.1:p.Val135=
XM_005266930.3:c.405G>C XP_005266987.1:p.Val135=
XM_011535748.3:c.405G>C XP_011534050.1:p.Val135=
XM_017010726.1:c.405G>C XP_016866215.1:p.Val135=
XM_017010727.2:c.405G>C XP_016866216.1:p.Val135=
XM_017010728.1:c.-398G>C XP_016866217.1:n.-398G>C
NM_001278716.2:c.405G>C MANE Select NP_001265645.1:p.Val135=
NR_103836.2:n.736G>C
NR_103837.2:n.736G>C
NM_012160.5:c.405G>C NP_036292.2:p.Val135=