Canonical Allele Identifier: CA16021045
Gene: FBXL4 HGNC NCBI

Linked Data

dbSNP Id: rs1299457710
gnomAD v2: 6-99322249-C-T
gnomAD v4: 6-98874373-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98874373C>T , CM000668.2:g.98874373C>T GRCh38
NC_000006.11:g.99322249C>T , CM000668.1:g.99322249C>T GRCh37
NC_000006.10:g.99428970C>T NCBI36
NG_033903.1:g.78634G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1771G>A MANE Select ENSP00000358247.1:p.Asp591Asn
ENST00000229971.2:c.1771G>A ENSP00000229971.1:p.Asp591Asn
ENST00000369244.6:c.1771G>A ENSP00000358247.1:p.Asp591Asn
NM_001278716.1:c.1771G>A NP_001265645.1:p.Asp591Asn
NM_012160.4:c.1771G>A NP_036292.2:p.Asp591Asn
NR_103836.1:n.1816G>A
XM_005266930.1:c.1699G>A XP_005266987.1:p.Asp567Asn
XM_005266930.3:c.1699G>A XP_005266987.1:p.Asp567Asn
XM_017010726.1:c.1771G>A XP_016866215.1:p.Asp591Asn
XM_017010727.2:c.1699G>A XP_016866216.1:p.Asp567Asn
XM_017010728.1:c.1045G>A XP_016866217.1:p.Asp349Asn
NM_001278716.2:c.1771G>A MANE Select NP_001265645.1:p.Asp591Asn
NR_103836.2:n.1756G>A
NM_012160.5:c.1771G>A NP_036292.2:p.Asp591Asn