Canonical Allele Identifier: CA361655424

Gene: FBXO38

Linked Data

• ClinVar Variation Id: 1780157
• ClinVar RCV Id: RCV002404190
• dbSNP Id: rs1306824476
• gnomAD v4: 5-148425572-G-C
• MyVariant Identifiers: chr5:g.147805135G>C (hg19) ; chr5:g.148425572G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148425572G>C , CM000667.2:g.148425572G>C	GRCh38
NC_000005.9:g.147805135G>C , CM000667.1:g.147805135G>C	GRCh37
NC_000005.8:g.147785328G>C	NCBI36
NG_033871.1:g.46638G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340253.10:c.1789G>C MANE Select	ENSP00000342023.6:p.Asp597His
ENST00000296701.10:c.1789G>C	ENSP00000296701.6:p.Asp597His
ENST00000340253.9:c.1789G>C	ENSP00000342023.5:p.Asp597His
ENST00000394370.7:c.1789G>C	ENSP00000377895.3:p.Asp597His
ENST00000513826.1:c.1789G>C	ENSP00000426410.1:p.Asp597His
ENST00000514832.1:n.420G>C
NM_001271723.1:c.1789G>C	NP_001258652.1:p.Asp597His
NM_030793.4:c.1789G>C	NP_110420.3:p.Asp597His
XM_005268513.1:c.1789G>C	XP_005268570.1:p.Asp597His
XM_006714797.1:c.1789G>C	XP_006714860.1:p.Asp597His
XM_011537683.1:c.691G>C	XP_011535985.1:p.Asp231His
XM_011537684.1:c.589G>C	XP_011535986.1:p.Asp197His
NM_205836.2:c.1789G>C	NP_995308.1:p.Asp597His
XM_006714797.2:c.1789G>C	XP_006714860.1:p.Asp597His
XM_011537684.3:c.589G>C	XP_011535986.1:p.Asp197His
XM_017009899.1:c.691G>C	XP_016865388.1:p.Asp231His
XM_017009900.2:c.589G>C	XP_016865389.1:p.Asp197His
XM_017009901.2:c.691G>C	XP_016865390.1:p.Asp231His
XM_017009902.2:c.589G>C	XP_016865391.1:p.Asp197His
XM_024446223.1:c.1789G>C	XP_024301991.1:p.Asp597His
XR_001742284.1:n.1935G>C
NM_030793.5:c.1789G>C	NP_110420.3:p.Asp597His
NM_205836.3:c.1789G>C MANE Select	NP_995308.1:p.Asp597His
NM_001271723.2:c.1789G>C	NP_001258652.1:p.Asp597His