Canonical Allele Identifier: CA337851231
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs746659309
gnomAD v2: 1-983171-C-G
gnomAD v4: 1-1047791-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1047791C>G , CM000663.2:g.1047791C>G GRCh38
NC_000001.10:g.983171C>G , CM000663.1:g.983171C>G GRCh37
NC_000001.9:g.973034C>G NCBI36
NG_016346.1:g.32669C>G , LRG_198:g.32669C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3647C>G MANE Select ENSP00000368678.2:p.Ala1216Gly
ENST00000651234.1:c.3332C>G ENSP00000499046.1:p.Ala1111Gly
ENST00000652369.1:c.3332C>G ENSP00000498543.1:p.Ala1111Gly
ENST00000379370.6:c.3647C>G ENSP00000368678.2:p.Ala1216Gly
ENST00000466223.1:n.385C>G
ENST00000478677.1:n.229C>G
ENST00000620552.4:c.3233C>G ENSP00000484607.1:p.Ala1078Gly
NM_001305275.1:c.3647C>G NP_001292204.1:p.Ala1216Gly
NM_198576.3:c.3647C>G NP_940978.2:p.Ala1216Gly
XM_005244749.2:c.3647C>G XP_005244806.1:p.Ala1216Gly
XM_006710635.2:c.3647C>G XP_006710698.1:p.Ala1216Gly
XM_011541429.1:c.3647C>G XP_011539731.1:p.Ala1216Gly
XM_011541430.1:c.2774C>G XP_011539732.1:p.Ala925Gly
XM_011541431.1:c.1913C>G XP_011539733.1:p.Ala638Gly
XR_946650.1:n.3714C>G
NM_001364727.1:c.3332C>G NP_001351656.1:p.Ala1111Gly
XM_005244749.3:c.3647C>G XP_005244806.1:p.Ala1216Gly
XM_011541429.2:c.3647C>G XP_011539731.1:p.Ala1216Gly
XR_946650.2:n.3718C>G
NM_001305275.2:c.3647C>G NP_001292204.1:p.Ala1216Gly
NM_198576.4:c.3647C>G MANE Select NP_940978.2:p.Ala1216Gly
NM_001364727.2:c.3332C>G NP_001351656.1:p.Ala1111Gly