Canonical Allele Identifier: CA16021068

Gene: FBXL4

Linked Data

• dbSNP Id: rs1395617784
• gnomAD v2: 6-99323446-G-A
• gnomAD v4: 6-98875570-G-A
• MyVariant Identifiers: chr6:g.99323446G>A (hg19) ; chr6:g.98875570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875570G>A , CM000668.2:g.98875570G>A	GRCh38
NC_000006.11:g.99323446G>A , CM000668.1:g.99323446G>A	GRCh37
NC_000006.10:g.99430167G>A	NCBI36
NG_033903.1:g.77437C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1547C>T MANE Select	ENSP00000358247.1:p.Pro516Leu
ENST00000229971.2:c.1547C>T	ENSP00000229971.1:p.Pro516Leu
ENST00000369244.6:c.1547C>T	ENSP00000358247.1:p.Pro516Leu
NM_001278716.1:c.1547C>T	NP_001265645.1:p.Pro516Leu
NM_012160.4:c.1547C>T	NP_036292.2:p.Pro516Leu
NR_103836.1:n.1592C>T
XM_005266930.1:c.1475C>T	XP_005266987.1:p.Pro492Leu
XM_005266930.3:c.1475C>T	XP_005266987.1:p.Pro492Leu
XM_017010726.1:c.1547C>T	XP_016866215.1:p.Pro516Leu
XM_017010727.2:c.1475C>T	XP_016866216.1:p.Pro492Leu
XM_017010728.1:c.821C>T	XP_016866217.1:p.Pro274Leu
NM_001278716.2:c.1547C>T MANE Select	NP_001265645.1:p.Pro516Leu
NR_103836.2:n.1532C>T
NM_012160.5:c.1547C>T	NP_036292.2:p.Pro516Leu