Canonical Allele Identifier: CA40505179

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1737720
• ClinVar RCV Id: RCV002323210 ; RCV003591937
• dbSNP Id: rs1006239457
• gnomAD v2: 1-245027202-C-T
• gnomAD v3: 1-244863900-C-T
• gnomAD v4: 1-244863900-C-T
• MyVariant Identifiers: chr1:g.245027202C>T (hg19) ; chr1:g.244863900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863900C>T , CM000663.2:g.244863900C>T	GRCh38
NC_000001.10:g.245027202C>T , CM000663.1:g.245027202C>T	GRCh37
NC_000001.9:g.243093825C>T	NCBI36
NG_042184.1:g.5626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.86G>A
ENST00000283179.14:c.408G>A	ENSP00000283179.10:p.Gln136=
ENST00000444376.7:c.408G>A	ENSP00000393151.2:p.Gln136=
ENST00000476241.2:n.593G>A
ENST00000638475.1:c.192G>A	ENSP00000491305.1:p.Gln64=
ENST00000638952.1:n.639G>A
ENST00000640218.2:c.408G>A MANE Select	ENSP00000491215.1:p.Gln136=
ENST00000640306.1:c.408G>A	ENSP00000491685.1:p.Gln136=
ENST00000640440.1:c.108G>A	ENSP00000491263.1:p.Gln36=
ENST00000649899.1:n.632G>A
ENST00000283179.13:c.408G>A	ENSP00000283179.9:p.Gln136=
ENST00000444376.6:c.408G>A	ENSP00000393151.2:p.Gln136=
ENST00000476241.1:n.592G>A
NM_004501.3:c.408G>A	NP_004492.2:p.Gln136=
NM_031844.2:c.408G>A	NP_114032.2:p.Gln136=
NM_031844.3:c.408G>A MANE Select	NP_114032.2:p.Gln136=