Canonical Allele Identifier: CA345497274

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1996285
• ClinVar RCV Id: RCV002823696
• dbSNP Id: rs1473996679
• gnomAD v2: 1-245027240-C-G
• gnomAD v3: 1-244863938-C-G
• gnomAD v4: 1-244863938-C-G
• MyVariant Identifiers: chr1:g.245027240C>G (hg19) ; chr1:g.245027240_245027282delinsGCTCCTCCATCGGGCCCGAGTCGGCCGCCCCCGCGGCCCCGTT (hg19) ; chr1:g.244863938C>G (hg38) ; chr1:g.244863938_244863980delinsGCTCCTCCATCGGGCCCGAGTCGGCCGCCCCCGCGGCCCCGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863938C>G , CM000663.2:g.244863938C>G	GRCh38
NC_000001.10:g.245027240C>G , CM000663.1:g.245027240C>G	GRCh37
NC_000001.9:g.243093863C>G	NCBI36
NG_042184.1:g.5588G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.48G>C
ENST00000283179.14:c.370G>C	ENSP00000283179.10:p.Glu124Gln
ENST00000444376.7:c.370G>C	ENSP00000393151.2:p.Glu124Gln
ENST00000476241.2:n.555G>C
ENST00000638475.1:c.154G>C	ENSP00000491305.1:p.Glu52Gln
ENST00000638952.1:n.601G>C
ENST00000640218.2:c.370G>C MANE Select	ENSP00000491215.1:p.Glu124Gln
ENST00000640306.1:c.370G>C	ENSP00000491685.1:p.Glu124Gln
ENST00000640440.1:c.70G>C	ENSP00000491263.1:p.Glu24Gln
ENST00000649899.1:n.594G>C
ENST00000283179.13:c.370G>C	ENSP00000283179.9:p.Glu124Gln
ENST00000444376.6:c.370G>C	ENSP00000393151.2:p.Glu124Gln
ENST00000476241.1:n.554G>C
NM_004501.3:c.370G>C	NP_004492.2:p.Glu124Gln
NM_031844.2:c.370G>C	NP_114032.2:p.Glu124Gln
NM_031844.3:c.370G>C MANE Select	NP_114032.2:p.Glu124Gln