Canonical Allele Identifier: CA16021061
Gene: FBXL4 HGNC NCBI

Linked Data

dbSNP Id: rs2128375577
gnomAD v4: 6-98875488-A-G
MyVariant Identifiers: chr6:g.99323364A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875488A>G , CM000668.2:g.98875488A>G GRCh38
NC_000006.11:g.99323364A>G , CM000668.1:g.99323364A>G GRCh37
NC_000006.10:g.99430085A>G NCBI36
NG_033903.1:g.77519T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1629T>C MANE Select ENSP00000358247.1:p.Asn543=
ENST00000229971.2:c.1629T>C ENSP00000229971.1:p.Asn543=
ENST00000369244.6:c.1629T>C ENSP00000358247.1:p.Asn543=
NM_001278716.1:c.1629T>C NP_001265645.1:p.Asn543=
NM_012160.4:c.1629T>C NP_036292.2:p.Asn543=
NR_103836.1:n.1674T>C
XM_005266930.1:c.1557T>C XP_005266987.1:p.Asn519=
XM_005266930.3:c.1557T>C XP_005266987.1:p.Asn519=
XM_017010726.1:c.1629T>C XP_016866215.1:p.Asn543=
XM_017010727.2:c.1557T>C XP_016866216.1:p.Asn519=
XM_017010728.1:c.903T>C XP_016866217.1:p.Asn301=
NM_001278716.2:c.1629T>C MANE Select NP_001265645.1:p.Asn543=
NR_103836.2:n.1614T>C
NM_012160.5:c.1629T>C NP_036292.2:p.Asn543=