Canonical Allele Identifier: CA290497319

Gene: NR1D1

Linked Data

• dbSNP Id: rs200897867
• gnomAD v3: 17-40099015-A-G
• gnomAD v4: 17-40099015-A-G
• MyVariant Identifiers: chr17:g.38255268A>G (hg19) ; chr17:g.40099015A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40099015A>G , CM000679.2:g.40099015A>G	GRCh38
NC_000017.10:g.38255268A>G , CM000679.1:g.38255268A>G	GRCh37
NC_000017.9:g.35508794A>G	NCBI36
NG_033084.1:g.6711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246672.4:c.31+1049T>C MANE Select	ENSP00000246672.3:n.31+1049T>C
ENST00000246672.3:c.31+1049T>C	ENSP00000246672.3:n.31+1049T>C
NM_021724.4:c.31+1049T>C	NP_068370.1:n.31+1049T>C
NM_021724.5:c.31+1049T>C MANE Select	NP_068370.1:n.31+1049T>C