Canonical Allele Identifier: CA16021056
Gene: FBXL4 HGNC NCBI

Linked Data

dbSNP Id: rs1234086673
gnomAD v2: 6-99323276-A-G
gnomAD v3: 6-98875400-A-G
gnomAD v4: 6-98875400-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875400A>G , CM000668.2:g.98875400A>G GRCh38
NC_000006.11:g.99323276A>G , CM000668.1:g.99323276A>G GRCh37
NC_000006.10:g.99429997A>G NCBI36
NG_033903.1:g.77607T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1702+15T>C MANE Select ENSP00000358247.1:n.1702+15T>C
ENST00000229971.2:c.1702+15T>C ENSP00000229971.1:n.1702+15T>C
ENST00000369244.6:c.1702+15T>C ENSP00000358247.1:n.1702+15T>C
NM_001278716.1:c.1702+15T>C NP_001265645.1:n.1702+15T>C
NM_012160.4:c.1702+15T>C NP_036292.2:n.1702+15T>C
NR_103836.1:n.1747+15T>C
XM_005266930.1:c.1630+15T>C XP_005266987.1:n.1630+15T>C
XM_005266930.3:c.1630+15T>C XP_005266987.1:n.1630+15T>C
XM_017010726.1:c.1702+15T>C XP_016866215.1:n.1702+15T>C
XM_017010727.2:c.1630+15T>C XP_016866216.1:n.1630+15T>C
XM_017010728.1:c.976+15T>C XP_016866217.1:n.976+15T>C
NM_001278716.2:c.1702+15T>C MANE Select NP_001265645.1:n.1702+15T>C
NR_103836.2:n.1687+15T>C
NM_012160.5:c.1702+15T>C NP_036292.2:n.1702+15T>C