Canonical Allele Identifier: CA345489668

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 545072
• ClinVar RCV Id: RCV000656291
• dbSNP Id: rs1553282372
• MyVariant Identifiers: chr1:g.245020030C>G (hg19) ; chr1:g.244856728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244856728C>G , CM000663.2:g.244856728C>G	GRCh38
NC_000001.10:g.245020030C>G , CM000663.1:g.245020030C>G	GRCh37
NC_000001.9:g.243086653C>G	NCBI36
NG_042184.1:g.12798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639628.2:c.915G>C	ENSP00000491340.1:p.Gln305His
ENST00000704074.1:c.1364G>C
ENST00000283179.14:c.1500G>C	ENSP00000283179.10:p.Gln500His
ENST00000366525.8:n.1356G>C
ENST00000440865.2:c.1074G>C	ENSP00000410728.2:p.Gln358His
ENST00000444376.7:c.1686G>C	ENSP00000393151.2:p.Gln562His
ENST00000468690.2:n.2837G>C
ENST00000476241.2:n.3857G>C
ENST00000483966.3:c.726G>C	ENSP00000492573.1:p.Gln242His
ENST00000638230.1:c.853G>C
ENST00000638301.1:c.915G>C	ENSP00000491807.1:p.Gln305His
ENST00000638475.1:c.1452G>C	ENSP00000491305.1:p.Gln484His
ENST00000638716.1:c.909G>C	ENSP00000491601.1:p.Gln303His
ENST00000638952.1:n.3960G>C
ENST00000639064.1:n.500G>C
ENST00000639628.1:c.915G>C	ENSP00000491340.1:p.Gln305His
ENST00000639824.1:c.319G>C
ENST00000639880.1:c.*679G>C	ENSP00000490988.1:n.*679G>C
ENST00000640001.1:c.915G>C	ENSP00000491294.1:p.Gln305His
ENST00000640056.1:c.1066G>C	ENSP00000492620.1:n.1066G>C
ENST00000640119.1:c.123G>C	ENSP00000491491.1:p.Gln41His
ENST00000640218.2:c.1743G>C MANE Select	ENSP00000491215.1:p.Gln581His
ENST00000640306.1:c.1686G>C	ENSP00000491685.1:p.Gln562His
ENST00000649899.1:n.1910G>C
ENST00000283179.13:c.1743G>C	ENSP00000283179.9:p.Gln581His
ENST00000366525.7:n.1483G>C
ENST00000444376.6:c.1686G>C	ENSP00000393151.2:p.Gln562His
ENST00000468690.1:n.349G>C
ENST00000483966.2:n.249G>C
NM_004501.3:c.1686G>C	NP_004492.2:p.Gln562His
NM_031844.2:c.1743G>C	NP_114032.2:p.Gln581His
NM_031844.3:c.1743G>C MANE Select	NP_114032.2:p.Gln581His