Canonical Allele Identifier: CA143896790
Gene: FBXL4 HGNC NCBI

Linked Data

dbSNP Id: rs546324446
gnomAD v2: 6-99323694-C-G
gnomAD v3: 6-98875818-C-G
gnomAD v4: 6-98875818-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875818C>G , CM000668.2:g.98875818C>G GRCh38
NC_000006.11:g.99323694C>G , CM000668.1:g.99323694C>G GRCh37
NC_000006.10:g.99430415C>G NCBI36
NG_033903.1:g.77189G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1390-91G>C MANE Select ENSP00000358247.1:n.1390-91G>C
ENST00000229971.2:c.1390-91G>C ENSP00000229971.1:n.1390-91G>C
ENST00000369244.6:c.1390-91G>C ENSP00000358247.1:n.1390-91G>C
NM_001278716.1:c.1390-91G>C NP_001265645.1:n.1390-91G>C
NM_012160.4:c.1390-91G>C NP_036292.2:n.1390-91G>C
NR_103836.1:n.1435-91G>C
XM_005266930.1:c.1318-91G>C XP_005266987.1:n.1318-91G>C
XM_005266930.3:c.1318-91G>C XP_005266987.1:n.1318-91G>C
XM_017010726.1:c.1390-91G>C XP_016866215.1:n.1390-91G>C
XM_017010727.2:c.1318-91G>C XP_016866216.1:n.1318-91G>C
XM_017010728.1:c.664-91G>C XP_016866217.1:n.664-91G>C
NM_001278716.2:c.1390-91G>C MANE Select NP_001265645.1:n.1390-91G>C
NR_103836.2:n.1375-91G>C
NM_012160.5:c.1390-91G>C NP_036292.2:n.1390-91G>C