Canonical Allele Identifier: CA68840856
Gene: BHLHE40-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.4972191T>C
GRCh37 chr3:g.5013876T>C
gnomAD v2:
3:5013876 T / C
gnomAD v3:
3:4972191 T / C
gnomAD v4:
chr3-4972191-T-C
Joint Max Group AF 0.91619678 (EAS)
Genomes Max Group AF 0.91619678 (EAS)
dbSNP:
6442925
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4972191T>C , CM000665.2:g.4972191T>C GRCh38
NC_000003.11:g.5013876T>C , CM000665.1:g.5013876T>C GRCh37
NC_000003.10:g.4988876T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_037903.3:n.167+7604A>G
NR_125915.1:n.167+7604A>G
NR_125916.1:n.167+7604A>G
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