Canonical Allele Identifier: CA365084635
Gene: FBXL4 HGNC NCBI

Linked Data

gnomAD v4: 6-98874312-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98874312G>T , CM000668.2:g.98874312G>T GRCh38
NC_000006.11:g.99322188G>T , CM000668.1:g.99322188G>T GRCh37
NC_000006.10:g.99428909G>T NCBI36
NG_033903.1:g.78695C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1832C>A MANE Select ENSP00000358247.1:p.Pro611Gln
ENST00000229971.2:c.1832C>A ENSP00000229971.1:p.Pro611Gln
ENST00000369244.6:c.1832C>A ENSP00000358247.1:p.Pro611Gln
NM_001278716.1:c.1832C>A NP_001265645.1:p.Pro611Gln
NM_012160.4:c.1832C>A NP_036292.2:p.Pro611Gln
NR_103836.1:n.1877C>A
XM_005266930.1:c.1760C>A XP_005266987.1:p.Pro587Gln
XM_005266930.3:c.1760C>A XP_005266987.1:p.Pro587Gln
XM_017010726.1:c.1832C>A XP_016866215.1:p.Pro611Gln
XM_017010727.2:c.1760C>A XP_016866216.1:p.Pro587Gln
XM_017010728.1:c.1106C>A XP_016866217.1:p.Pro369Gln
NM_001278716.2:c.1832C>A MANE Select NP_001265645.1:p.Pro611Gln
NR_103836.2:n.1817C>A
NM_012160.5:c.1832C>A NP_036292.2:p.Pro611Gln