Canonical Allele Identifier: CA345496689

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2974474
• ClinVar RCV Id: RCV003836112
• dbSNP Id: rs1234854769
• gnomAD v3: 1-244863781-T-C
• gnomAD v4: 1-244863781-T-C
• MyVariant Identifiers: chr1:g.245027083T>C (hg19) ; chr1:g.244863781T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863781T>C , CM000663.2:g.244863781T>C	GRCh38
NC_000001.10:g.245027083T>C , CM000663.1:g.245027083T>C	GRCh37
NC_000001.9:g.243093706T>C	NCBI36
NG_042184.1:g.5745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.205A>G
ENST00000283179.14:c.527A>G	ENSP00000283179.10:p.Gln176Arg
ENST00000444376.7:c.527A>G	ENSP00000393151.2:p.Gln176Arg
ENST00000476241.2:n.712A>G
ENST00000638475.1:c.311A>G	ENSP00000491305.1:p.Gln104Arg
ENST00000638952.1:n.758A>G
ENST00000640218.2:c.527A>G MANE Select	ENSP00000491215.1:p.Gln176Arg
ENST00000640306.1:c.527A>G	ENSP00000491685.1:p.Gln176Arg
ENST00000640440.1:c.227A>G	ENSP00000491263.1:p.Gln76Arg
ENST00000649899.1:n.751A>G
ENST00000283179.13:c.527A>G	ENSP00000283179.9:p.Gln176Arg
ENST00000444376.6:c.527A>G	ENSP00000393151.2:p.Gln176Arg
ENST00000476241.1:n.711A>G
NM_004501.3:c.527A>G	NP_004492.2:p.Gln176Arg
NM_031844.2:c.527A>G	NP_114032.2:p.Gln176Arg
NM_031844.3:c.527A>G MANE Select	NP_114032.2:p.Gln176Arg