Canonical Allele Identifier: CA337853423
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1365383696
gnomAD v2: 1-983699-C-A
gnomAD v4: 1-1048319-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048319C>A , CM000663.2:g.1048319C>A GRCh38
NC_000001.10:g.983699C>A , CM000663.1:g.983699C>A GRCh37
NC_000001.9:g.973562C>A NCBI36
NG_016346.1:g.33197C>A , LRG_198:g.33197C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.4059C>A MANE Select ENSP00000368678.2:p.Phe1353Leu
ENST00000651234.1:c.3744C>A ENSP00000499046.1:p.Phe1248Leu
ENST00000652369.1:c.3744C>A ENSP00000498543.1:p.Phe1248Leu
ENST00000379370.6:c.4059C>A ENSP00000368678.2:p.Phe1353Leu
ENST00000620552.4:c.3645C>A ENSP00000484607.1:p.Phe1215Leu
NM_001305275.1:c.4059C>A NP_001292204.1:p.Phe1353Leu
NM_198576.3:c.4059C>A NP_940978.2:p.Phe1353Leu
XM_005244749.2:c.4059C>A XP_005244806.1:p.Phe1353Leu
XM_006710635.2:c.4059C>A XP_006710698.1:p.Phe1353Leu
XM_011541429.1:c.4059C>A XP_011539731.1:p.Phe1353Leu
XM_011541430.1:c.3186C>A XP_011539732.1:p.Phe1062Leu
XM_011541431.1:c.2325C>A XP_011539733.1:p.Phe775Leu
XR_946650.1:n.4126C>A
NM_001364727.1:c.3744C>A NP_001351656.1:p.Phe1248Leu
XM_005244749.3:c.4059C>A XP_005244806.1:p.Phe1353Leu
XM_011541429.2:c.4059C>A XP_011539731.1:p.Phe1353Leu
XR_946650.2:n.4130C>A
NM_001305275.2:c.4059C>A NP_001292204.1:p.Phe1353Leu
NM_198576.4:c.4059C>A MANE Select NP_940978.2:p.Phe1353Leu
NM_001364727.2:c.3744C>A NP_001351656.1:p.Phe1248Leu