Canonical Allele Identifier: CA1486787
Gene: HNRNPU HGNC NCBI

Linked Data

ClinVar Variation Id: 446400
ClinVar RCV Id: RCV000558591 RCV002525006 RCV001821448 RCV002314897
dbSNP Id: rs139561508
ExAC: 1:245027103 C / T
gnomAD v2: 1-245027103-C-T
gnomAD v3: 1-244863801-C-T
gnomAD v4: 1-244863801-C-T
COSMIC: COSM3356548 COSM3356549
MyVariant Identifiers: chr1:g.245027103C>T (hg19) chr1:g.244863801C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.244863801C>T , CM000663.2:g.244863801C>T GRCh38
NC_000001.10:g.245027103C>T , CM000663.1:g.245027103C>T GRCh37
NC_000001.9:g.243093726C>T NCBI36
NG_042184.1:g.5725G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704074.1:c.185G>A
ENST00000283179.14:c.507G>A ENSP00000283179.10:p.Gln169=
ENST00000444376.7:c.507G>A ENSP00000393151.2:p.Gln169=
ENST00000476241.2:n.692G>A
ENST00000638475.1:c.291G>A ENSP00000491305.1:p.Gln97=
ENST00000638952.1:n.738G>A
ENST00000640218.2:c.507G>A MANE Select ENSP00000491215.1:p.Gln169=
ENST00000640306.1:c.507G>A ENSP00000491685.1:p.Gln169=
ENST00000640440.1:c.207G>A ENSP00000491263.1:p.Gln69=
ENST00000649899.1:n.731G>A
ENST00000283179.13:c.507G>A ENSP00000283179.9:p.Gln169=
ENST00000444376.6:c.507G>A ENSP00000393151.2:p.Gln169=
ENST00000476241.1:n.691G>A
NM_004501.3:c.507G>A NP_004492.2:p.Gln169=
NM_031844.2:c.507G>A NP_114032.2:p.Gln169=
NM_031844.3:c.507G>A MANE Select NP_114032.2:p.Gln169=
Search 100 bp 5'
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