Canonical Allele Identifier: CA290497452

Gene: NR1D1

Linked Data

• dbSNP Id: rs375052023
• gnomAD v2: 17-38255527-G-A
• gnomAD v3: 17-40099274-G-A
• gnomAD v4: 17-40099274-G-A
• MyVariant Identifiers: chr17:g.38255527G>A (hg19) ; chr17:g.40099274G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40099274G>A , CM000679.2:g.40099274G>A	GRCh38
NC_000017.10:g.38255527G>A , CM000679.1:g.38255527G>A	GRCh37
NC_000017.9:g.35509053G>A	NCBI36
NG_033084.1:g.6452C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000246672.4:c.31+790C>T MANE Select	ENSP00000246672.3:n.31+790C>T
ENST00000246672.3:c.31+790C>T	ENSP00000246672.3:n.31+790C>T
NM_021724.4:c.31+790C>T	NP_068370.1:n.31+790C>T
NM_021724.5:c.31+790C>T MANE Select	NP_068370.1:n.31+790C>T