Canonical Allele Identifier: CA345496791

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 836208
• ClinVar RCV Id: RCV002551378
• dbSNP Id: rs139561508
• gnomAD v2: 1-245027103-C-G
• gnomAD v4: 1-244863801-C-G
• MyVariant Identifiers: chr1:g.245027103C>G (hg19) ; chr1:g.244863801C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863801C>G , CM000663.2:g.244863801C>G	GRCh38
NC_000001.10:g.245027103C>G , CM000663.1:g.245027103C>G	GRCh37
NC_000001.9:g.243093726C>G	NCBI36
NG_042184.1:g.5725G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.185G>C
ENST00000283179.14:c.507G>C	ENSP00000283179.10:p.Gln169His
ENST00000444376.7:c.507G>C	ENSP00000393151.2:p.Gln169His
ENST00000476241.2:n.692G>C
ENST00000638475.1:c.291G>C	ENSP00000491305.1:p.Gln97His
ENST00000638952.1:n.738G>C
ENST00000640218.2:c.507G>C MANE Select	ENSP00000491215.1:p.Gln169His
ENST00000640306.1:c.507G>C	ENSP00000491685.1:p.Gln169His
ENST00000640440.1:c.207G>C	ENSP00000491263.1:p.Gln69His
ENST00000649899.1:n.731G>C
ENST00000283179.13:c.507G>C	ENSP00000283179.9:p.Gln169His
ENST00000444376.6:c.507G>C	ENSP00000393151.2:p.Gln169His
ENST00000476241.1:n.691G>C
NM_004501.3:c.507G>C	NP_004492.2:p.Gln169His
NM_031844.2:c.507G>C	NP_114032.2:p.Gln169His
NM_031844.3:c.507G>C MANE Select	NP_114032.2:p.Gln169His