Canonical Allele Identifier: CA424402513

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1623800
• ClinVar RCV Id: RCV003053429
• dbSNP Id: rs1372261485
• gnomAD v2: 1-245026986-C-T
• gnomAD v3: 1-244863684-C-T
• gnomAD v4: 1-244863684-C-T
• MyVariant Identifiers: chr1:g.245026986C>T (hg19) ; chr1:g.244863684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863684C>T , CM000663.2:g.244863684C>T	GRCh38
NC_000001.10:g.245026986C>T , CM000663.1:g.245026986C>T	GRCh37
NC_000001.9:g.243093609C>T	NCBI36
NG_042184.1:g.5842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.302G>A
ENST00000283179.14:c.624G>A	ENSP00000283179.10:p.Gln208=
ENST00000444376.7:c.624G>A	ENSP00000393151.2:p.Gln208=
ENST00000476241.2:n.809G>A
ENST00000638475.1:c.408G>A	ENSP00000491305.1:p.Gln136=
ENST00000638952.1:n.855G>A
ENST00000640218.2:c.624G>A MANE Select	ENSP00000491215.1:p.Gln208=
ENST00000640306.1:c.624G>A	ENSP00000491685.1:p.Gln208=
ENST00000640440.1:c.324G>A	ENSP00000491263.1:p.Gln108=
ENST00000649899.1:n.848G>A
ENST00000283179.13:c.624G>A	ENSP00000283179.9:p.Gln208=
ENST00000444376.6:c.624G>A	ENSP00000393151.2:p.Gln208=
ENST00000476241.1:n.808G>A
NM_004501.3:c.624G>A	NP_004492.2:p.Gln208=
NM_031844.2:c.624G>A	NP_114032.2:p.Gln208=
NM_031844.3:c.624G>A MANE Select	NP_114032.2:p.Gln208=