Canonical Allele Identifier: CA290497262
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs997422102
gnomAD v3: 17-40098944-T-C
gnomAD v4: 17-40098944-T-C
MyVariant Identifiers: chr17:g.38255197T>C (hg19) chr17:g.40098944T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40098944T>C , CM000679.2:g.40098944T>C GRCh38
NC_000017.10:g.38255197T>C , CM000679.1:g.38255197T>C GRCh37
NC_000017.9:g.35508723T>C NCBI36
NG_033084.1:g.6782A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+1120A>G MANE Select ENSP00000246672.3:n.31+1120A>G
ENST00000246672.3:c.31+1120A>G ENSP00000246672.3:n.31+1120A>G
NM_021724.4:c.31+1120A>G NP_068370.1:n.31+1120A>G
NM_021724.5:c.31+1120A>G MANE Select NP_068370.1:n.31+1120A>G
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