Canonical Allele Identifier: CA290497386
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs1004337780
gnomAD v3: 17-40099146-G-T
gnomAD v4: 17-40099146-G-T
MyVariant Identifiers: chr17:g.38255399G>T (hg19) chr17:g.40099146G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40099146G>T , CM000679.2:g.40099146G>T GRCh38
NC_000017.10:g.38255399G>T , CM000679.1:g.38255399G>T GRCh37
NC_000017.9:g.35508925G>T NCBI36
NG_033084.1:g.6580C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000246672.4:c.31+918C>A MANE Select ENSP00000246672.3:n.31+918C>A
ENST00000246672.3:c.31+918C>A ENSP00000246672.3:n.31+918C>A
NM_021724.4:c.31+918C>A NP_068370.1:n.31+918C>A
NM_021724.5:c.31+918C>A MANE Select NP_068370.1:n.31+918C>A
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