Canonical Allele Identifier: CA424402702

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2114776
• ClinVar RCV Id: RCV003042956
• dbSNP Id: rs539279281
• gnomAD v3: 1-244863867-G-A
• gnomAD v4: 1-244863867-G-A
• MyVariant Identifiers: chr1:g.245027169G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863867G>A , CM000663.2:g.244863867G>A	GRCh38
NC_000001.10:g.245027169G>A , CM000663.1:g.245027169G>A	GRCh37
NC_000001.9:g.243093792G>A	NCBI36
NG_042184.1:g.5659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.119C>T
ENST00000283179.14:c.441C>T	ENSP00000283179.10:p.Asp147=
ENST00000444376.7:c.441C>T	ENSP00000393151.2:p.Asp147=
ENST00000476241.2:n.626C>T
ENST00000638475.1:c.225C>T	ENSP00000491305.1:p.Asp75=
ENST00000638952.1:n.672C>T
ENST00000640218.2:c.441C>T MANE Select	ENSP00000491215.1:p.Asp147=
ENST00000640306.1:c.441C>T	ENSP00000491685.1:p.Asp147=
ENST00000640440.1:c.141C>T	ENSP00000491263.1:p.Asp47=
ENST00000649899.1:n.665C>T
ENST00000283179.13:c.441C>T	ENSP00000283179.9:p.Asp147=
ENST00000444376.6:c.441C>T	ENSP00000393151.2:p.Asp147=
ENST00000476241.1:n.625C>T
NM_004501.3:c.441C>T	NP_004492.2:p.Asp147=
NM_031844.2:c.441C>T	NP_114032.2:p.Asp147=
NM_031844.3:c.441C>T MANE Select	NP_114032.2:p.Asp147=