Canonical Allele Identifier: CA16021230
Gene: FBXL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1901598
ClinVar RCV Id: RCV002577093
dbSNP Id: rs897845720
gnomAD v2: 6-99374569-G-T
gnomAD v4: 6-98926693-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98926693G>T , CM000668.2:g.98926693G>T GRCh38
NC_000006.11:g.99374569G>T , CM000668.1:g.99374569G>T GRCh37
NC_000006.10:g.99481290G>T NCBI36
NG_033903.1:g.26314C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.296C>A MANE Select ENSP00000358247.1:p.Thr99Asn
ENST00000229971.2:c.296C>A ENSP00000229971.1:p.Thr99Asn
ENST00000369244.6:c.296C>A ENSP00000358247.1:p.Thr99Asn
NM_001278716.1:c.296C>A NP_001265645.1:p.Thr99Asn
NM_012160.4:c.296C>A NP_036292.2:p.Thr99Asn
NR_103836.1:n.687C>A
NR_103837.1:n.687C>A
XM_005266930.1:c.296C>A XP_005266987.1:p.Thr99Asn
XM_011535748.1:c.296C>A XP_011534050.1:p.Thr99Asn
XM_005266930.3:c.296C>A XP_005266987.1:p.Thr99Asn
XM_011535748.3:c.296C>A XP_011534050.1:p.Thr99Asn
XM_017010726.1:c.296C>A XP_016866215.1:p.Thr99Asn
XM_017010727.2:c.296C>A XP_016866216.1:p.Thr99Asn
XM_017010728.1:c.-507C>A XP_016866217.1:n.-507C>A
NM_001278716.2:c.296C>A MANE Select NP_001265645.1:p.Thr99Asn
NR_103836.2:n.627C>A
NR_103837.2:n.627C>A
NM_012160.5:c.296C>A NP_036292.2:p.Thr99Asn