Canonical Allele Identifier: CA10614076

Gene: NRXN1

Linked Data

• ClinVar Variation Id: 336498
• ClinVar RCV Id: RCV000321383
• dbSNP Id: rs531095026
• gnomAD v2: 2-50145959-G-A
• gnomAD v3: 2-49918821-G-A
• gnomAD v4: 2-49918821-G-A
• MyVariant Identifiers: chr2:g.50145959G>A (hg19) ; chr2:g.49918821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.49918821G>A , CM000664.2:g.49918821G>A	GRCh38
NC_000002.11:g.50145959G>A , CM000664.1:g.50145959G>A	GRCh37
NC_000002.10:g.49999463G>A	NCBI36
NG_011878.1:g.1118716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.*3123C>T MANE Select	ENSP00000385017.2:n.*3123C>T
ENST00000406316.6:c.*3123C>T	ENSP00000384311.2:n.*3123C>T
ENST00000625672.2:c.*3123C>T	ENSP00000485887.1:n.*3123C>T
NM_001135659.1:c.*3123C>T	NP_001129131.1:n.*3123C>T
NM_004801.4:c.*3123C>T	NP_004792.1:n.*3123C>T
NM_138735.2:c.*3123C>T	NP_620072.1:n.*3123C>T
NM_001135659.2:c.*3123C>T	NP_001129131.1:n.*3123C>T
NM_001320156.3:c.*3123C>T	NP_001307085.1:n.*3123C>T
NM_001320157.3:c.*3123C>T	NP_001307086.1:n.*3123C>T
NM_001330077.1:c.*3123C>T	NP_001317006.1:n.*3123C>T
NM_001330078.1:c.*3123C>T	NP_001317007.1:n.*3123C>T
NM_001330082.1:c.*3123C>T	NP_001317011.1:n.*3123C>T
NM_001330083.1:c.*3123C>T	NP_001317012.1:n.*3123C>T
NM_001330084.1:c.*3123C>T	NP_001317013.1:n.*3123C>T
NM_001330085.1:c.*3123C>T	NP_001317014.1:n.*3123C>T
NM_001330086.1:c.*3123C>T	NP_001317015.1:n.*3123C>T
NM_001330087.1:c.*3123C>T	NP_001317016.1:n.*3123C>T
NM_001330088.1:c.*3123C>T	NP_001317017.1:n.*3123C>T
NM_001330091.1:c.*3123C>T	NP_001317020.1:n.*3123C>T
NM_001330092.1:c.*3123C>T	NP_001317021.1:n.*3123C>T
NM_001330093.1:c.*3123C>T	NP_001317022.1:n.*3123C>T
NM_001330094.1:c.*3123C>T	NP_001317023.1:n.*3123C>T
NM_001330095.1:c.*3123C>T	NP_001317024.1:n.*3123C>T
NM_001330096.1:c.*3123C>T	NP_001317025.1:n.*3123C>T
NM_001330097.1:c.*3123C>T	NP_001317026.1:n.*3123C>T
NM_004801.5:c.*3123C>T	NP_004792.1:n.*3123C>T
NM_138735.4:c.*3123C>T	NP_620072.1:n.*3123C>T
NM_001330078.2:c.*3123C>T MANE Select	NP_001317007.1:n.*3123C>T
NM_001135659.3:c.*3123C>T	NP_001129131.1:n.*3123C>T
NM_001320156.4:c.*3123C>T	NP_001307085.1:n.*3123C>T
NM_001320157.4:c.*3123C>T	NP_001307086.1:n.*3123C>T
NM_001330077.2:c.*3123C>T	NP_001317006.1:n.*3123C>T
NM_001330082.2:c.*3123C>T	NP_001317011.1:n.*3123C>T
NM_001330083.2:c.*3123C>T	NP_001317012.1:n.*3123C>T
NM_001330084.2:c.*3123C>T	NP_001317013.1:n.*3123C>T
NM_001330085.2:c.*3123C>T	NP_001317014.1:n.*3123C>T
NM_001330086.2:c.*3123C>T	NP_001317015.1:n.*3123C>T
NM_001330087.2:c.*3123C>T	NP_001317016.1:n.*3123C>T
NM_001330088.2:c.*3123C>T	NP_001317017.1:n.*3123C>T
NM_001330091.2:c.*3123C>T	NP_001317020.1:n.*3123C>T
NM_001330092.2:c.*3123C>T	NP_001317021.1:n.*3123C>T
NM_001330093.2:c.*3123C>T	NP_001317022.1:n.*3123C>T
NM_001330094.2:c.*3123C>T	NP_001317023.1:n.*3123C>T
NM_001330095.2:c.*3123C>T	NP_001317024.1:n.*3123C>T
NM_001330096.2:c.*3123C>T	NP_001317025.1:n.*3123C>T
NM_001330097.2:c.*3123C>T	NP_001317026.1:n.*3123C>T
NM_004801.6:c.*3123C>T	NP_004792.1:n.*3123C>T
NM_138735.5:c.*3123C>T	NP_620072.1:n.*3123C>T