Canonical Allele Identifier: CA3933707
Gene: FBXL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 437561
dbSNP Id: rs368243492
gnomAD v2: 6-99374533-G-A
gnomAD v3: 6-98926657-G-A
gnomAD v4: 6-98926657-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98926657G>A , CM000668.2:g.98926657G>A GRCh38
NC_000006.11:g.99374533G>A , CM000668.1:g.99374533G>A GRCh37
NC_000006.10:g.99481254G>A NCBI36
NG_033903.1:g.26350C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.332C>T MANE Select ENSP00000358247.1:p.Ser111Phe
ENST00000229971.2:c.332C>T ENSP00000229971.1:p.Ser111Phe
ENST00000369244.6:c.332C>T ENSP00000358247.1:p.Ser111Phe
NM_001278716.1:c.332C>T NP_001265645.1:p.Ser111Phe
NM_012160.4:c.332C>T NP_036292.2:p.Ser111Phe
NR_103836.1:n.723C>T
NR_103837.1:n.723C>T
XM_005266930.1:c.332C>T XP_005266987.1:p.Ser111Phe
XM_011535748.1:c.332C>T XP_011534050.1:p.Ser111Phe
XM_005266930.3:c.332C>T XP_005266987.1:p.Ser111Phe
XM_011535748.3:c.332C>T XP_011534050.1:p.Ser111Phe
XM_017010726.1:c.332C>T XP_016866215.1:p.Ser111Phe
XM_017010727.2:c.332C>T XP_016866216.1:p.Ser111Phe
XM_017010728.1:c.-471C>T XP_016866217.1:n.-471C>T
NM_001278716.2:c.332C>T MANE Select NP_001265645.1:p.Ser111Phe
NR_103836.2:n.663C>T
NR_103837.2:n.663C>T
NM_012160.5:c.332C>T NP_036292.2:p.Ser111Phe