Canonical Allele Identifier: CA1486747

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1646406
• ClinVar RCV Id: RCV003081030
• dbSNP Id: rs765471448
• ExAC: 1:245026901 G / A
• gnomAD v2: 1-245026901-G-A
• gnomAD v3: 1-244863599-G-A
• gnomAD v4: 1-244863599-G-A
• MyVariant Identifiers: chr1:g.245026901G>A (hg19) ; chr1:g.244863599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863599G>A , CM000663.2:g.244863599G>A	GRCh38
NC_000001.10:g.245026901G>A , CM000663.1:g.245026901G>A	GRCh37
NC_000001.9:g.243093524G>A	NCBI36
NG_042184.1:g.5927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.312+75C>T
ENST00000283179.14:c.634+75C>T	ENSP00000283179.10:n.634+75C>T
ENST00000444376.7:c.634+75C>T	ENSP00000393151.2:n.634+75C>T
ENST00000476241.2:n.819+75C>T
ENST00000638475.1:c.418+75C>T	ENSP00000491305.1:n.418+75C>T
ENST00000638952.1:n.922+18C>T
ENST00000640056.1:c.37+18C>T	ENSP00000492620.1:n.37+18C>T
ENST00000640218.2:c.691+18C>T MANE Select	ENSP00000491215.1:n.691+18C>T
ENST00000640306.1:c.634+75C>T	ENSP00000491685.1:n.634+75C>T
ENST00000640440.1:c.334+75C>T	ENSP00000491263.1:n.334+75C>T
ENST00000649899.1:n.858+75C>T
ENST00000283179.13:c.691+18C>T	ENSP00000283179.9:n.691+18C>T
ENST00000444376.6:c.634+75C>T	ENSP00000393151.2:n.634+75C>T
ENST00000476241.1:n.818+75C>T
NM_004501.3:c.634+75C>T	NP_004492.2:n.634+75C>T
NM_031844.2:c.691+18C>T	NP_114032.2:n.691+18C>T
NM_031844.3:c.691+18C>T MANE Select	NP_114032.2:n.691+18C>T