Canonical Allele Identifier: CA3933721
Gene: FBXL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 437550
ClinVar RCV Id: RCV000500050
dbSNP Id: rs762217448
gnomAD v2: 6-99374664-A-C
gnomAD v4: 6-98926788-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98926788A>C , CM000668.2:g.98926788A>C GRCh38
NC_000006.11:g.99374664A>C , CM000668.1:g.99374664A>C GRCh37
NC_000006.10:g.99481385A>C NCBI36
NG_033903.1:g.26219T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.201T>G MANE Select ENSP00000358247.1:p.Ser67Arg
ENST00000229971.2:c.201T>G ENSP00000229971.1:p.Ser67Arg
ENST00000369244.6:c.201T>G ENSP00000358247.1:p.Ser67Arg
NM_001278716.1:c.201T>G NP_001265645.1:p.Ser67Arg
NM_012160.4:c.201T>G NP_036292.2:p.Ser67Arg
NR_103836.1:n.592T>G
NR_103837.1:n.592T>G
XM_005266930.1:c.201T>G XP_005266987.1:p.Ser67Arg
XM_011535748.1:c.201T>G XP_011534050.1:p.Ser67Arg
XM_005266930.3:c.201T>G XP_005266987.1:p.Ser67Arg
XM_011535748.3:c.201T>G XP_011534050.1:p.Ser67Arg
XM_017010726.1:c.201T>G XP_016866215.1:p.Ser67Arg
XM_017010727.2:c.201T>G XP_016866216.1:p.Ser67Arg
XM_017010728.1:c.-602T>G XP_016866217.1:n.-602T>G
NM_001278716.2:c.201T>G MANE Select NP_001265645.1:p.Ser67Arg
NR_103836.2:n.532T>G
NR_103837.2:n.532T>G
NM_012160.5:c.201T>G NP_036292.2:p.Ser67Arg