Canonical Allele Identifier: CA3933408
Gene: FBXL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 437784
ClinVar RCV Id: RCV000504148
dbSNP Id: rs753327689
gnomAD v2: 6-99323323-T-C
gnomAD v4: 6-98875447-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875447T>C , CM000668.2:g.98875447T>C GRCh38
NC_000006.11:g.99323323T>C , CM000668.1:g.99323323T>C GRCh37
NC_000006.10:g.99430044T>C NCBI36
NG_033903.1:g.77560A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1670A>G MANE Select ENSP00000358247.1:p.Asn557Ser
ENST00000229971.2:c.1670A>G ENSP00000229971.1:p.Asn557Ser
ENST00000369244.6:c.1670A>G ENSP00000358247.1:p.Asn557Ser
NM_001278716.1:c.1670A>G NP_001265645.1:p.Asn557Ser
NM_012160.4:c.1670A>G NP_036292.2:p.Asn557Ser
NR_103836.1:n.1715A>G
XM_005266930.1:c.1598A>G XP_005266987.1:p.Asn533Ser
XM_005266930.3:c.1598A>G XP_005266987.1:p.Asn533Ser
XM_017010726.1:c.1670A>G XP_016866215.1:p.Asn557Ser
XM_017010727.2:c.1598A>G XP_016866216.1:p.Asn533Ser
XM_017010728.1:c.944A>G XP_016866217.1:p.Asn315Ser
NM_001278716.2:c.1670A>G MANE Select NP_001265645.1:p.Asn557Ser
NR_103836.2:n.1655A>G
NM_012160.5:c.1670A>G NP_036292.2:p.Asn557Ser