Canonical Allele Identifier: CA446934491

Gene: FBXO38

Linked Data

• ClinVar Variation Id: 2122326
• ClinVar RCV Id: RCV003053993
• MyVariant Identifiers: chr5:g.147805134T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148425571T>C , CM000667.2:g.148425571T>C	GRCh38
NC_000005.9:g.147805134T>C , CM000667.1:g.147805134T>C	GRCh37
NC_000005.8:g.147785327T>C	NCBI36
NG_033871.1:g.46637T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340253.10:c.1788T>C MANE Select	ENSP00000342023.6:p.His596=
ENST00000296701.10:c.1788T>C	ENSP00000296701.6:p.His596=
ENST00000340253.9:c.1788T>C	ENSP00000342023.5:p.His596=
ENST00000394370.7:c.1788T>C	ENSP00000377895.3:p.His596=
ENST00000513826.1:c.1788T>C	ENSP00000426410.1:p.His596=
ENST00000514832.1:n.419T>C
NM_001271723.1:c.1788T>C	NP_001258652.1:p.His596=
NM_030793.4:c.1788T>C	NP_110420.3:p.His596=
XM_005268513.1:c.1788T>C	XP_005268570.1:p.His596=
XM_006714797.1:c.1788T>C	XP_006714860.1:p.His596=
XM_011537683.1:c.690T>C	XP_011535985.1:p.His230=
XM_011537684.1:c.588T>C	XP_011535986.1:p.His196=
NM_205836.2:c.1788T>C	NP_995308.1:p.His596=
XM_006714797.2:c.1788T>C	XP_006714860.1:p.His596=
XM_011537684.3:c.588T>C	XP_011535986.1:p.His196=
XM_017009899.1:c.690T>C	XP_016865388.1:p.His230=
XM_017009900.2:c.588T>C	XP_016865389.1:p.His196=
XM_017009901.2:c.690T>C	XP_016865390.1:p.His230=
XM_017009902.2:c.588T>C	XP_016865391.1:p.His196=
XM_024446223.1:c.1788T>C	XP_024301991.1:p.His596=
XR_001742284.1:n.1934T>C
NM_030793.5:c.1788T>C	NP_110420.3:p.His596=
NM_205836.3:c.1788T>C MANE Select	NP_995308.1:p.His596=
NM_001271723.2:c.1788T>C	NP_001258652.1:p.His596=