Canonical Allele Identifier: CA345497301

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 765751
• ClinVar RCV Id: RCV002544615
• dbSNP Id: rs1455165658
• gnomAD v2: 1-245027251-G-C
• gnomAD v4: 1-244863949-G-C
• COSMIC: COSM5053313 ; COSM5053314
• MyVariant Identifiers: chr1:g.245027251G>C (hg19) ; chr1:g.244863949G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863949G>C , CM000663.2:g.244863949G>C	GRCh38
NC_000001.10:g.245027251G>C , CM000663.1:g.245027251G>C	GRCh37
NC_000001.9:g.243093874G>C	NCBI36
NG_042184.1:g.5577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.37C>G
ENST00000283179.14:c.359C>G	ENSP00000283179.10:p.Pro120Arg
ENST00000444376.7:c.359C>G	ENSP00000393151.2:p.Pro120Arg
ENST00000476241.2:n.544C>G
ENST00000638475.1:c.143C>G	ENSP00000491305.1:p.Pro48Arg
ENST00000638952.1:n.590C>G
ENST00000640218.2:c.359C>G MANE Select	ENSP00000491215.1:p.Pro120Arg
ENST00000640306.1:c.359C>G	ENSP00000491685.1:p.Pro120Arg
ENST00000640440.1:c.59C>G	ENSP00000491263.1:p.Pro20Arg
ENST00000649899.1:n.583C>G
ENST00000283179.13:c.359C>G	ENSP00000283179.9:p.Pro120Arg
ENST00000444376.6:c.359C>G	ENSP00000393151.2:p.Pro120Arg
ENST00000476241.1:n.543C>G
NM_004501.3:c.359C>G	NP_004492.2:p.Pro120Arg
NM_031844.2:c.359C>G	NP_114032.2:p.Pro120Arg
NM_031844.3:c.359C>G MANE Select	NP_114032.2:p.Pro120Arg