Canonical Allele Identifier: CA3933426

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 437768
• ClinVar RCV Id: RCV000499968 ; RCV002524388
• dbSNP Id: rs145806027
• ExAC: 6:99323447 G / A
• gnomAD v2: 6-99323447-G-A
• gnomAD v3: 6-98875571-G-A
• gnomAD v4: 6-98875571-G-A
• MyVariant Identifiers: chr6:g.99323447G>A (hg19) ; chr6:g.98875571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875571G>A , CM000668.2:g.98875571G>A	GRCh38
NC_000006.11:g.99323447G>A , CM000668.1:g.99323447G>A	GRCh37
NC_000006.10:g.99430168G>A	NCBI36
NG_033903.1:g.77436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1546C>T MANE Select	ENSP00000358247.1:p.Pro516Ser
ENST00000229971.2:c.1546C>T	ENSP00000229971.1:p.Pro516Ser
ENST00000369244.6:c.1546C>T	ENSP00000358247.1:p.Pro516Ser
NM_001278716.1:c.1546C>T	NP_001265645.1:p.Pro516Ser
NM_012160.4:c.1546C>T	NP_036292.2:p.Pro516Ser
NR_103836.1:n.1591C>T
XM_005266930.1:c.1474C>T	XP_005266987.1:p.Pro492Ser
XM_005266930.3:c.1474C>T	XP_005266987.1:p.Pro492Ser
XM_017010726.1:c.1546C>T	XP_016866215.1:p.Pro516Ser
XM_017010727.2:c.1474C>T	XP_016866216.1:p.Pro492Ser
XM_017010728.1:c.820C>T	XP_016866217.1:p.Pro274Ser
NM_001278716.2:c.1546C>T MANE Select	NP_001265645.1:p.Pro516Ser
NR_103836.2:n.1531C>T
NM_012160.5:c.1546C>T	NP_036292.2:p.Pro516Ser