Canonical Allele Identifier: CA365084994
Gene: FBXL4 HGNC NCBI

Linked Data

dbSNP Id: rs1176966594
gnomAD v2: 6-99322294-A-G
gnomAD v4: 6-98874418-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98874418A>G , CM000668.2:g.98874418A>G GRCh38
NC_000006.11:g.99322294A>G , CM000668.1:g.99322294A>G GRCh37
NC_000006.10:g.99429015A>G NCBI36
NG_033903.1:g.78589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1726T>C MANE Select ENSP00000358247.1:p.Ser576Pro
ENST00000229971.2:c.1726T>C ENSP00000229971.1:p.Ser576Pro
ENST00000369244.6:c.1726T>C ENSP00000358247.1:p.Ser576Pro
NM_001278716.1:c.1726T>C NP_001265645.1:p.Ser576Pro
NM_012160.4:c.1726T>C NP_036292.2:p.Ser576Pro
NR_103836.1:n.1771T>C
XM_005266930.1:c.1654T>C XP_005266987.1:p.Ser552Pro
XM_005266930.3:c.1654T>C XP_005266987.1:p.Ser552Pro
XM_017010726.1:c.1726T>C XP_016866215.1:p.Ser576Pro
XM_017010727.2:c.1654T>C XP_016866216.1:p.Ser552Pro
XM_017010728.1:c.1000T>C XP_016866217.1:p.Ser334Pro
NM_001278716.2:c.1726T>C MANE Select NP_001265645.1:p.Ser576Pro
NR_103836.2:n.1711T>C
NM_012160.5:c.1726T>C NP_036292.2:p.Ser576Pro