Canonical Allele Identifier: CA1486085

Gene: HNRNPU COX20

Linked Data

• ClinVar Variation Id: 377749
• ClinVar RCV Id: RCV000443397 ; RCV000676408
• dbSNP Id: rs140032239
• ExAC: 1:245005290 C / T
• gnomAD v2: 1-245005290-C-T
• gnomAD v3: 1-244841988-C-T
• gnomAD v4: 1-244841988-C-T
• MyVariant Identifiers: chr1:g.245005290C>T (hg19) ; chr1:g.244841988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244841988C>T , CM000663.2:g.244841988C>T	GRCh38
NC_000001.10:g.245005290C>T , CM000663.1:g.245005290C>T	GRCh37
NC_000001.9:g.243071913C>T	NCBI36
NG_042825.1:g.11683C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366527.4:n.11502G>A (HNRNPU)
ENST00000411948.7:c.87C>T (COX20) MANE Select	ENSP00000406327.2:p.Cys29=
ENST00000475997.6:c.3940G>A (HNRNPU)	ENSP00000482621.2:n.3940G>A
ENST00000649899.1:n.11783G>A (HNRNPU)
ENST00000366528.3:c.123C>T (COX20)	ENSP00000355486.3:p.Cys41=
ENST00000391839.6:n.102-207C>T (COX20)
ENST00000411948.6:c.87C>T (COX20)	ENSP00000406327.2:p.Cys29=
ENST00000464757.1:n.2242C>T (COX20)
ENST00000498262.1:n.143C>T (COX20)
NM_001312871.1:c.87C>T (COX20)	NP_001299800.1:p.Cys29=
NM_001312872.1:c.123C>T (COX20)	NP_001299801.1:p.Cys41=
NM_001312873.1:c.23-207C>T (COX20)	NP_001299802.1:n.23-207C>T
NM_001312874.1:c.87C>T (COX20)	NP_001299803.1:p.Cys29=
NM_198076.4:c.87C>T (COX20)	NP_932342.1:p.Cys29=
NM_198076.5:c.87C>T (COX20)	NP_932342.1:p.Cys29=
NR_132419.1:n.282-207C>T (COX20)
NR_132420.1:n.306C>T (COX20)
NR_132421.1:n.262-211C>T (COX20)
NM_198076.6:c.87C>T (COX20) MANE Select	NP_932342.1:p.Cys29=