Canonical Allele Identifier: CA3933468
Community Standard Title: NM_001278716.2(FBXL4):c.1353A>G (p.Ser451=)
Gene: FBXL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98880589T>C , CM000668.2:g.98880589T>C GRCh38
NC_000006.11:g.99328465T>C , CM000668.1:g.99328465T>C GRCh37
NC_000006.10:g.99435186T>C NCBI36
NG_033903.1:g.72418A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001278716.2:c.1353A>G MANE Select NP_001265645.1:p.Ser451=
ENST00000369244.7:c.1353A>G MANE Select ENSP00000358247.1:p.Ser451=
NM_001278716.1:c.1353A>G NP_001265645.1:p.Ser451=
NM_012160.4:c.1353A>G NP_036292.2:p.Ser451=
NM_012160.5:c.1353A>G NP_036292.2:p.Ser451=
NR_103836.1:n.1398A>G
NR_103836.2:n.1338A>G
ENST00000229971.2:c.1353A>G ENSP00000229971.1:p.Ser451=
ENST00000369244.6:c.1353A>G ENSP00000358247.1:p.Ser451=
XM_005266930.1:c.1318-4862A>G XP_005266987.1:n.1318-4862A>G
XM_005266930.3:c.1318-4862A>G XP_005266987.1:n.1318-4862A>G
XM_017010726.1:c.1353A>G XP_016866215.1:p.Ser451=
XM_017010727.2:c.1318-4862A>G XP_016866216.1:n.1318-4862A>G
XM_017010728.1:c.627A>G XP_016866217.1:p.Ser209=