Canonical Allele Identifier: CA16760236
Gene: AGRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1018064
ClinVar RCV Id: RCV001317310
dbSNP Id: rs963483105
gnomAD v2: 1-983532-G-A
gnomAD v3: 1-1048152-G-A
gnomAD v4: 1-1048152-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048152G>A , CM000663.2:g.1048152G>A GRCh38
NC_000001.10:g.983532G>A , CM000663.1:g.983532G>A GRCh37
NC_000001.9:g.973395G>A NCBI36
NG_016346.1:g.33030G>A , LRG_198:g.33030G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3892G>A MANE Select ENSP00000368678.2:p.Val1298Ile
ENST00000651234.1:c.3577G>A ENSP00000499046.1:p.Val1193Ile
ENST00000652369.1:c.3577G>A ENSP00000498543.1:p.Val1193Ile
ENST00000379370.6:c.3892G>A ENSP00000368678.2:p.Val1298Ile
ENST00000620552.4:c.3478G>A ENSP00000484607.1:p.Val1160Ile
NM_001305275.1:c.3892G>A NP_001292204.1:p.Val1298Ile
NM_198576.3:c.3892G>A NP_940978.2:p.Val1298Ile
XM_005244749.2:c.3892G>A XP_005244806.1:p.Val1298Ile
XM_006710635.2:c.3892G>A XP_006710698.1:p.Val1298Ile
XM_011541429.1:c.3892G>A XP_011539731.1:p.Val1298Ile
XM_011541430.1:c.3019G>A XP_011539732.1:p.Val1007Ile
XM_011541431.1:c.2158G>A XP_011539733.1:p.Val720Ile
XR_946650.1:n.3959G>A
NM_001364727.1:c.3577G>A NP_001351656.1:p.Val1193Ile
XM_005244749.3:c.3892G>A XP_005244806.1:p.Val1298Ile
XM_011541429.2:c.3892G>A XP_011539731.1:p.Val1298Ile
XR_946650.2:n.3963G>A
NM_001305275.2:c.3892G>A NP_001292204.1:p.Val1298Ile
NM_198576.4:c.3892G>A MANE Select NP_940978.2:p.Val1298Ile
NM_001364727.2:c.3577G>A NP_001351656.1:p.Val1193Ile