Canonical Allele Identifier: CA143896020
Gene: FBXL4 HGNC NCBI

Linked Data

dbSNP Id: rs1045491228
gnomAD v2: 6-99322979-T-C
gnomAD v3: 6-98875103-T-C
gnomAD v4: 6-98875103-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875103T>C , CM000668.2:g.98875103T>C GRCh38
NC_000006.11:g.99322979T>C , CM000668.1:g.99322979T>C GRCh37
NC_000006.10:g.99429700T>C NCBI36
NG_033903.1:g.77904A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1702+312A>G MANE Select ENSP00000358247.1:n.1702+312A>G
ENST00000229971.2:c.1702+312A>G ENSP00000229971.1:n.1702+312A>G
ENST00000369244.6:c.1702+312A>G ENSP00000358247.1:n.1702+312A>G
NM_001278716.1:c.1702+312A>G NP_001265645.1:n.1702+312A>G
NM_012160.4:c.1702+312A>G NP_036292.2:n.1702+312A>G
NR_103836.1:n.1747+312A>G
XM_005266930.1:c.1630+312A>G XP_005266987.1:n.1630+312A>G
XM_005266930.3:c.1630+312A>G XP_005266987.1:n.1630+312A>G
XM_017010726.1:c.1702+312A>G XP_016866215.1:n.1702+312A>G
XM_017010727.2:c.1630+312A>G XP_016866216.1:n.1630+312A>G
XM_017010728.1:c.976+312A>G XP_016866217.1:n.976+312A>G
NM_001278716.2:c.1702+312A>G MANE Select NP_001265645.1:n.1702+312A>G
NR_103836.2:n.1687+312A>G
NM_012160.5:c.1702+312A>G NP_036292.2:n.1702+312A>G