Canonical Allele Identifier: CA48253073

Gene: NRXN1-DT

Linked Data

• dbSNP Id: rs1049868764
• gnomAD v3: 2-51845314-C-T
• gnomAD v4: 2-51845314-C-T
• COSMIC: COSN20758647 ; COSN24138570
• MyVariant Identifiers: chr2:g.52072452C>T (hg19) ; chr2:g.51845314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.51845314C>T , CM000664.2:g.51845314C>T	GRCh38
NC_000002.11:g.52072452C>T , CM000664.1:g.52072452C>T	GRCh37
NC_000002.10:g.51925956C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245003.1:n.840-16135C>T
NR_135237.1:n.840-16135C>T