Canonical Allele Identifier: CA14401385
Gene: NR1D1 HGNC NCBI
COSMIC:
COSN6548323 (not active)
MyVariant.info:
GRCh38 chr17:g.40100440G>A
GRCh37 chr17:g.38256693G>A
gnomAD v2:
17:38256693 G / A
gnomAD v3:
17:40100440 G / A
gnomAD v4:
chr17-40100440-G-A
Joint Max Group AF 0.48919865 (EAS)
Genomes Max Group AF 0.51454461 (EAS)
Exomes Max Group AF 0.48120332 (EAS)
dbSNP:
939347
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40100440G>A , CM000679.2:g.40100440G>A GRCh38
NC_000017.10:g.38256693G>A , CM000679.1:g.38256693G>A GRCh37
NC_000017.9:g.35510219G>A NCBI36
NG_033084.1:g.5286C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.-346C>T MANE Select ENSP00000246672.3:n.-346C>T
ENST00000246672.3:c.-346C>T ENSP00000246672.3:n.-346C>T
NM_021724.4:c.-346C>T NP_068370.1:n.-346C>T
NM_021724.5:c.-346C>T MANE Select NP_068370.1:n.-346C>T
Search 100 bp 5'
Search 100 bp 3'