Canonical Allele Identifier: CA983655780
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs1987816380
gnomAD v3: 17-40098895-A-C
gnomAD v4: 17-40098895-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40098895A>C , CM000679.2:g.40098895A>C GRCh38
NC_000017.10:g.38255148A>C , CM000679.1:g.38255148A>C GRCh37
NC_000017.9:g.35508674A>C NCBI36
NG_033084.1:g.6831T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+1169T>G MANE Select ENSP00000246672.3:n.31+1169T>G
ENST00000246672.3:c.31+1169T>G ENSP00000246672.3:n.31+1169T>G
NM_021724.4:c.31+1169T>G NP_068370.1:n.31+1169T>G
NM_021724.5:c.31+1169T>G MANE Select NP_068370.1:n.31+1169T>G
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