Canonical Allele Identifier: CA143896529
Gene: FBXL4 HGNC NCBI

Linked Data

dbSNP Id: rs538186768
gnomAD v3: 6-98875572-G-A
gnomAD v4: 6-98875572-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875572G>A , CM000668.2:g.98875572G>A GRCh38
NC_000006.11:g.99323448G>A , CM000668.1:g.99323448G>A GRCh37
NC_000006.10:g.99430169G>A NCBI36
NG_033903.1:g.77435C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1545C>T MANE Select ENSP00000358247.1:p.Cys515=
ENST00000229971.2:c.1545C>T ENSP00000229971.1:p.Cys515=
ENST00000369244.6:c.1545C>T ENSP00000358247.1:p.Cys515=
NM_001278716.1:c.1545C>T NP_001265645.1:p.Cys515=
NM_012160.4:c.1545C>T NP_036292.2:p.Cys515=
NR_103836.1:n.1590C>T
XM_005266930.1:c.1473C>T XP_005266987.1:p.Cys491=
XM_005266930.3:c.1473C>T XP_005266987.1:p.Cys491=
XM_017010726.1:c.1545C>T XP_016866215.1:p.Cys515=
XM_017010727.2:c.1473C>T XP_016866216.1:p.Cys491=
XM_017010728.1:c.819C>T XP_016866217.1:p.Cys273=
NM_001278716.2:c.1545C>T MANE Select NP_001265645.1:p.Cys515=
NR_103836.2:n.1530C>T
NM_012160.5:c.1545C>T NP_036292.2:p.Cys515=