Canonical Allele Identifier: CA625964015

Gene: NR1D1

Linked Data

• dbSNP Id: rs1210632292
• gnomAD v2: 17-38255190-G-C
• gnomAD v3: 17-40098937-G-C
• gnomAD v4: 17-40098937-G-C
• MyVariant Identifiers: chr17:g.38255190G>C (hg19) ; chr17:g.40098937G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40098937G>C , CM000679.2:g.40098937G>C	GRCh38
NC_000017.10:g.38255190G>C , CM000679.1:g.38255190G>C	GRCh37
NC_000017.9:g.35508716G>C	NCBI36
NG_033084.1:g.6789C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246672.4:c.31+1127C>G MANE Select	ENSP00000246672.3:n.31+1127C>G
ENST00000246672.3:c.31+1127C>G	ENSP00000246672.3:n.31+1127C>G
NM_021724.4:c.31+1127C>G	NP_068370.1:n.31+1127C>G
NM_021724.5:c.31+1127C>G MANE Select	NP_068370.1:n.31+1127C>G