Canonical Allele Identifier: CA625964079

Gene: NR1D1

Linked Data

• dbSNP Id: rs1451769504
• gnomAD v2: 17-38255513-C-A
• gnomAD v3: 17-40099260-C-A
• gnomAD v4: 17-40099260-C-A
• MyVariant Identifiers: chr17:g.38255513C>A (hg19) ; chr17:g.40099260C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40099260C>A , CM000679.2:g.40099260C>A	GRCh38
NC_000017.10:g.38255513C>A , CM000679.1:g.38255513C>A	GRCh37
NC_000017.9:g.35509039C>A	NCBI36
NG_033084.1:g.6466G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000246672.4:c.31+804G>T MANE Select	ENSP00000246672.3:n.31+804G>T
ENST00000246672.3:c.31+804G>T	ENSP00000246672.3:n.31+804G>T
NM_021724.4:c.31+804G>T	NP_068370.1:n.31+804G>T
NM_021724.5:c.31+804G>T MANE Select	NP_068370.1:n.31+804G>T