Canonical Allele Identifier: CA771897921
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs1344033632
gnomAD v3: 17-40098822-A-C
gnomAD v4: 17-40098822-A-C
MyVariant Identifiers: chr17:g.38255075A>C (hg19) chr17:g.40098822A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40098822A>C , CM000679.2:g.40098822A>C GRCh38
NC_000017.10:g.38255075A>C , CM000679.1:g.38255075A>C GRCh37
NC_000017.9:g.35508601A>C NCBI36
NG_033084.1:g.6904T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+1242T>G MANE Select ENSP00000246672.3:n.31+1242T>G
ENST00000246672.3:c.31+1242T>G ENSP00000246672.3:n.31+1242T>G
NM_021724.4:c.31+1242T>G NP_068370.1:n.31+1242T>G
NM_021724.5:c.31+1242T>G MANE Select NP_068370.1:n.31+1242T>G
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