Canonical Allele Identifier: CA290497205
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs890336079
gnomAD v3: 17-40098834-C-A
gnomAD v4: 17-40098834-C-A
MyVariant Identifiers: chr17:g.38255087C>A (hg19) chr17:g.40098834C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40098834C>A , CM000679.2:g.40098834C>A GRCh38
NC_000017.10:g.38255087C>A , CM000679.1:g.38255087C>A GRCh37
NC_000017.9:g.35508613C>A NCBI36
NG_033084.1:g.6892G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+1230G>T MANE Select ENSP00000246672.3:n.31+1230G>T
ENST00000246672.3:c.31+1230G>T ENSP00000246672.3:n.31+1230G>T
NM_021724.4:c.31+1230G>T NP_068370.1:n.31+1230G>T
NM_021724.5:c.31+1230G>T MANE Select NP_068370.1:n.31+1230G>T
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