Canonical Allele Identifier: CA3933414

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 437779
• ClinVar RCV Id: RCV000500488
• dbSNP Id: rs780589605
• ExAC: 6:99323367 A / C
• gnomAD v2: 6-99323367-A-C
• gnomAD v3: 6-98875491-A-C
• gnomAD v4: 6-98875491-A-C
• MyVariant Identifiers: chr6:g.99323367A>C (hg19) ; chr6:g.98875491A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875491A>C , CM000668.2:g.98875491A>C	GRCh38
NC_000006.11:g.99323367A>C , CM000668.1:g.99323367A>C	GRCh37
NC_000006.10:g.99430088A>C	NCBI36
NG_033903.1:g.77516T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369244.7:c.1626T>G MANE Select	ENSP00000358247.1:p.Ala542=
ENST00000229971.2:c.1626T>G	ENSP00000229971.1:p.Ala542=
ENST00000369244.6:c.1626T>G	ENSP00000358247.1:p.Ala542=
NM_001278716.1:c.1626T>G	NP_001265645.1:p.Ala542=
NM_012160.4:c.1626T>G	NP_036292.2:p.Ala542=
NR_103836.1:n.1671T>G
XM_005266930.1:c.1554T>G	XP_005266987.1:p.Ala518=
XM_005266930.3:c.1554T>G	XP_005266987.1:p.Ala518=
XM_017010726.1:c.1626T>G	XP_016866215.1:p.Ala542=
XM_017010727.2:c.1554T>G	XP_016866216.1:p.Ala518=
XM_017010728.1:c.900T>G	XP_016866217.1:p.Ala300=
NM_001278716.2:c.1626T>G MANE Select	NP_001265645.1:p.Ala542=
NR_103836.2:n.1611T>G
NM_012160.5:c.1626T>G	NP_036292.2:p.Ala542=