Canonical Allele Identifier: CA520625195
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs770817951
gnomAD v2: 1-985760-C-T
gnomAD v4: 1-1050380-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1050380C>T , CM000663.2:g.1050380C>T GRCh38
NC_000001.10:g.985760C>T , CM000663.1:g.985760C>T GRCh37
NC_000001.9:g.975623C>T NCBI36
NG_016346.1:g.35258C>T , LRG_198:g.35258C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.4977-47C>T MANE Select ENSP00000368678.2:n.4977-47C>T
ENST00000651234.1:c.4662-47C>T ENSP00000499046.1:n.4662-47C>T
ENST00000652369.1:c.4662-47C>T ENSP00000498543.1:n.4662-47C>T
ENST00000379370.6:c.4977-47C>T ENSP00000368678.2:n.4977-47C>T
ENST00000620552.4:c.4563-47C>T ENSP00000484607.1:n.4563-47C>T
NM_001305275.1:c.4977-47C>T NP_001292204.1:n.4977-47C>T
NM_198576.3:c.4977-47C>T NP_940978.2:n.4977-47C>T
XM_005244749.2:c.4977-47C>T XP_005244806.1:n.4977-47C>T
XM_006710635.2:c.4977-47C>T XP_006710698.1:n.4977-47C>T
XM_011541429.1:c.4977-47C>T XP_011539731.1:n.4977-47C>T
XM_011541430.1:c.4104-47C>T XP_011539732.1:n.4104-47C>T
XM_011541431.1:c.3243-47C>T XP_011539733.1:n.3243-47C>T
XR_946650.1:n.5044-47C>T
NM_001364727.1:c.4662-47C>T NP_001351656.1:n.4662-47C>T
XM_005244749.3:c.4977-47C>T XP_005244806.1:n.4977-47C>T
XM_011541429.2:c.4977-47C>T XP_011539731.1:n.4977-47C>T
XR_946650.2:n.5048-47C>T
NM_001305275.2:c.4977-47C>T NP_001292204.1:n.4977-47C>T
NM_198576.4:c.4977-47C>T MANE Select NP_940978.2:n.4977-47C>T
NM_001364727.2:c.4662-47C>T NP_001351656.1:n.4662-47C>T