Canonical Allele Identifier: CA523458359

Gene: NEGR1

Linked Data

• dbSNP Id: rs1191389220
• gnomAD v2: 1-72071006-A-C
• gnomAD v3: 1-71605323-A-C
• gnomAD v4: 1-71605323-A-C
• MyVariant Identifiers: chr1:g.72071006A>C (hg19) ; chr1:g.71605323A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.71605323A>C , CM000663.2:g.71605323A>C	GRCh38
NC_000001.10:g.72071006A>C , CM000663.1:g.72071006A>C	GRCh37
NC_000001.9:g.71843594A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357731.10:c.788+5703T>G MANE Select	ENSP00000350364.4:n.788+5703T>G
ENST00000306821.3:c.404+5703T>G	ENSP00000305938.3:n.404+5703T>G
ENST00000357731.9:c.788+5703T>G	ENSP00000350364.4:n.788+5703T>G
ENST00000434200.5:c.623+5703T>G	ENSP00000413294.2:n.623+5703T>G
NM_173808.2:c.788+5703T>G	NP_776169.2:n.788+5703T>G
XM_011541200.1:c.788+5703T>G	XP_011539502.1:n.788+5703T>G
XM_011541200.3:c.788+5703T>G	XP_011539502.1:n.788+5703T>G
NM_173808.3:c.788+5703T>G MANE Select	NP_776169.2:n.788+5703T>G