Canonical Allele Identifier: CA14464155
Gene: NR1D1 HGNC NCBI
COSMIC:
COSN19673608 (not active)
MyVariant.info:
GRCh38 chr17:g.40096959C>T
GRCh37 chr17:g.38253212C>T
gnomAD v2:
17:38253212 C / T
gnomAD v3:
17:40096959 C / T
gnomAD v4:
chr17-40096959-C-T
Joint Max Group AF 0.54473287 (EAS)
Genomes Max Group AF 0.56151485 (EAS)
Exomes Max Group AF 0.54050913 (EAS)
dbSNP:
2314339
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40096959C>T , CM000679.2:g.40096959C>T GRCh38
NC_000017.10:g.38253212C>T , CM000679.1:g.38253212C>T GRCh37
NC_000017.9:g.35506738C>T NCBI36
NG_033084.1:g.8767G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.370+106G>A MANE Select ENSP00000246672.3:n.370+106G>A
ENST00000246672.3:c.370+106G>A ENSP00000246672.3:n.370+106G>A
NM_021724.4:c.370+106G>A NP_068370.1:n.370+106G>A
NM_021724.5:c.370+106G>A MANE Select NP_068370.1:n.370+106G>A
Search 100 bp 5'
Search 100 bp 3'