Canonical Allele Identifier: CA771898391
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs1363051219
gnomAD v3: 17-40099380-G-C
gnomAD v4: 17-40099380-G-C
MyVariant Identifiers: chr17:g.38255633G>C (hg19) chr17:g.40099380G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40099380G>C , CM000679.2:g.40099380G>C GRCh38
NC_000017.10:g.38255633G>C , CM000679.1:g.38255633G>C GRCh37
NC_000017.9:g.35509159G>C NCBI36
NG_033084.1:g.6346C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+684C>G MANE Select ENSP00000246672.3:n.31+684C>G
ENST00000246672.3:c.31+684C>G ENSP00000246672.3:n.31+684C>G
NM_021724.4:c.31+684C>G NP_068370.1:n.31+684C>G
NM_021724.5:c.31+684C>G MANE Select NP_068370.1:n.31+684C>G
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