Canonical Allele Identifier: CA365087600

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 2441390
• ClinVar RCV Id: RCV003147219
• MyVariant Identifiers: chr6:g.99323528A>C (hg19) ; chr6:g.98875652A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875652A>C , CM000668.2:g.98875652A>C	GRCh38
NC_000006.11:g.99323528A>C , CM000668.1:g.99323528A>C	GRCh37
NC_000006.10:g.99430249A>C	NCBI36
NG_033903.1:g.77355T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1465T>G MANE Select	ENSP00000358247.1:p.Cys489Gly
ENST00000229971.2:c.1465T>G	ENSP00000229971.1:p.Cys489Gly
ENST00000369244.6:c.1465T>G	ENSP00000358247.1:p.Cys489Gly
NM_001278716.1:c.1465T>G	NP_001265645.1:p.Cys489Gly
NM_012160.4:c.1465T>G	NP_036292.2:p.Cys489Gly
NR_103836.1:n.1510T>G
XM_005266930.1:c.1393T>G	XP_005266987.1:p.Cys465Gly
XM_005266930.3:c.1393T>G	XP_005266987.1:p.Cys465Gly
XM_017010726.1:c.1465T>G	XP_016866215.1:p.Cys489Gly
XM_017010727.2:c.1393T>G	XP_016866216.1:p.Cys465Gly
XM_017010728.1:c.739T>G	XP_016866217.1:p.Cys247Gly
NM_001278716.2:c.1465T>G MANE Select	NP_001265645.1:p.Cys489Gly
NR_103836.2:n.1450T>G
NM_012160.5:c.1465T>G	NP_036292.2:p.Cys489Gly