Canonical Allele Identifier: CA424402699

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2164658
• ClinVar RCV Id: RCV003088146
• dbSNP Id: rs2102990673
• gnomAD v3: 1-244863864-T-C
• gnomAD v4: 1-244863864-T-C
• MyVariant Identifiers: chr1:g.245027166T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863864T>C , CM000663.2:g.244863864T>C	GRCh38
NC_000001.10:g.245027166T>C , CM000663.1:g.245027166T>C	GRCh37
NC_000001.9:g.243093789T>C	NCBI36
NG_042184.1:g.5662A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.122A>G
ENST00000283179.14:c.444A>G	ENSP00000283179.10:p.Glu148=
ENST00000444376.7:c.444A>G	ENSP00000393151.2:p.Glu148=
ENST00000476241.2:n.629A>G
ENST00000638475.1:c.228A>G	ENSP00000491305.1:p.Glu76=
ENST00000638952.1:n.675A>G
ENST00000640218.2:c.444A>G MANE Select	ENSP00000491215.1:p.Glu148=
ENST00000640306.1:c.444A>G	ENSP00000491685.1:p.Glu148=
ENST00000640440.1:c.144A>G	ENSP00000491263.1:p.Glu48=
ENST00000649899.1:n.668A>G
ENST00000283179.13:c.444A>G	ENSP00000283179.9:p.Glu148=
ENST00000444376.6:c.444A>G	ENSP00000393151.2:p.Glu148=
ENST00000476241.1:n.628A>G
NM_004501.3:c.444A>G	NP_004492.2:p.Glu148=
NM_031844.2:c.444A>G	NP_114032.2:p.Glu148=
NM_031844.3:c.444A>G MANE Select	NP_114032.2:p.Glu148=