Canonical Allele Identifier: CA16602493

Gene: U2AF1

Linked Data

• ClinVar Variation Id: 376024
• ClinVar RCV Id: RCV000427799 ; RCV000438020 ; RCV003321588
• dbSNP Id: rs371246226
• gnomAD v3: 21-43094667-T-G
• gnomAD v4: 21-43094667-T-G
• COSMIC: COSM211534 ; COSM1318797
• MyVariant Identifiers: chr21:g.43094667T>G (hg38)
• PubMed: PMID:22158538 ; PMID:23029227 ; PMID:23861105

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43094667T>G , CM000683.2:g.43094667T>G	GRCh38
NG_029455.1:g.17912A>C , LRG_615:g.17912A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291552.9:c.470A>C MANE Select	ENSP00000291552.4:p.Gln157Pro
ENST00000291552.8:c.470A>C	ENSP00000291552.4:p.Gln157Pro
ENST00000380276.6:c.470A>C	ENSP00000369629.2:p.Gln157Pro
ENST00000398137.5:c.251A>C	ENSP00000381205.1:p.Gln84Pro
ENST00000459639.5:c.251A>C	ENSP00000418705.1:p.Gln84Pro
ENST00000464750.5:c.*309A>C	ENSP00000420672.1:n.*309A>C
ENST00000471250.5:n.1277A>C
ENST00000475639.5:n.4295A>C
ENST00000478282.1:n.1724A>C
ENST00000486519.5:n.517A>C
NM_001025203.1:c.470A>C , LRG_615t1:c.470A>C	NP_001020374.1:p.Gln157Pro
NM_001025204.1:c.251A>C	NP_001020375.1:p.Gln84Pro
NM_006758.2:c.470A>C , LRG_615t2:c.470A>C	NP_006749.1:p.Gln157Pro
XM_011529743.1:c.371A>C	XP_011528045.1:p.Gln124Pro
XM_011529743.3:c.371A>C	XP_011528045.1:p.Gln124Pro
XM_017028468.2:c.371A>C	XP_016883957.1:p.Gln124Pro
XM_024452129.1:c.251A>C	XP_024307897.1:p.Gln84Pro
XM_024452130.1:c.251A>C	XP_024307898.1:p.Gln84Pro
XM_024452131.1:c.251A>C	XP_024307899.1:p.Gln84Pro
NM_001025204.2:c.251A>C	NP_001020375.1:p.Gln84Pro
NM_006758.3:c.470A>C MANE Select	NP_006749.1:p.Gln157Pro