Canonical Allele Identifier: CA415758491
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1299162026
gnomAD v2: 1-983696-C-A
gnomAD v4: 1-1048316-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048316C>A , CM000663.2:g.1048316C>A GRCh38
NC_000001.10:g.983696C>A , CM000663.1:g.983696C>A GRCh37
NC_000001.9:g.973559C>A NCBI36
NG_016346.1:g.33194C>A , LRG_198:g.33194C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.4056C>A MANE Select ENSP00000368678.2:p.Gly1352=
ENST00000651234.1:c.3741C>A ENSP00000499046.1:p.Gly1247=
ENST00000652369.1:c.3741C>A ENSP00000498543.1:p.Gly1247=
ENST00000379370.6:c.4056C>A ENSP00000368678.2:p.Gly1352=
ENST00000620552.4:c.3642C>A ENSP00000484607.1:p.Gly1214=
NM_001305275.1:c.4056C>A NP_001292204.1:p.Gly1352=
NM_198576.3:c.4056C>A NP_940978.2:p.Gly1352=
XM_005244749.2:c.4056C>A XP_005244806.1:p.Gly1352=
XM_006710635.2:c.4056C>A XP_006710698.1:p.Gly1352=
XM_011541429.1:c.4056C>A XP_011539731.1:p.Gly1352=
XM_011541430.1:c.3183C>A XP_011539732.1:p.Gly1061=
XM_011541431.1:c.2322C>A XP_011539733.1:p.Gly774=
XR_946650.1:n.4123C>A
NM_001364727.1:c.3741C>A NP_001351656.1:p.Gly1247=
XM_005244749.3:c.4056C>A XP_005244806.1:p.Gly1352=
XM_011541429.2:c.4056C>A XP_011539731.1:p.Gly1352=
XR_946650.2:n.4127C>A
NM_001305275.2:c.4056C>A NP_001292204.1:p.Gly1352=
NM_198576.4:c.4056C>A MANE Select NP_940978.2:p.Gly1352=
NM_001364727.2:c.3741C>A NP_001351656.1:p.Gly1247=