Canonical Allele Identifier: CA3933338

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 437486
• ClinVar RCV Id: RCV000502841 ; RCV000657861
• dbSNP Id: rs201989042
• ExAC: 6:99322230 T / G
• gnomAD v2: 6-99322230-T-G
• gnomAD v3: 6-98874354-T-G
• gnomAD v4: 6-98874354-T-G
• MyVariant Identifiers: chr6:g.99322230T>G (hg19) ; chr6:g.98874354T>G (hg38)
• PubMed: PMID:23993194

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98874354T>G , CM000668.2:g.98874354T>G	GRCh38
NC_000006.11:g.99322230T>G , CM000668.1:g.99322230T>G	GRCh37
NC_000006.10:g.99428951T>G	NCBI36
NG_033903.1:g.78653A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369244.7:c.1790A>C MANE Select	ENSP00000358247.1:p.Gln597Pro
ENST00000229971.2:c.1790A>C	ENSP00000229971.1:p.Gln597Pro
ENST00000369244.6:c.1790A>C	ENSP00000358247.1:p.Gln597Pro
NM_001278716.1:c.1790A>C	NP_001265645.1:p.Gln597Pro
NM_012160.4:c.1790A>C	NP_036292.2:p.Gln597Pro
NR_103836.1:n.1835A>C
XM_005266930.1:c.1718A>C	XP_005266987.1:p.Gln573Pro
XM_005266930.3:c.1718A>C	XP_005266987.1:p.Gln573Pro
XM_017010726.1:c.1790A>C	XP_016866215.1:p.Gln597Pro
XM_017010727.2:c.1718A>C	XP_016866216.1:p.Gln573Pro
XM_017010728.1:c.1064A>C	XP_016866217.1:p.Gln355Pro
NM_001278716.2:c.1790A>C MANE Select	NP_001265645.1:p.Gln597Pro
NR_103836.2:n.1775A>C
NM_012160.5:c.1790A>C	NP_036292.2:p.Gln597Pro