Canonical Allele Identifier: CA509255
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs542631667
gnomAD v2: 1-983473-G-A
gnomAD v3: 1-1048093-G-A
gnomAD v4: 1-1048093-G-A
COSMIC: COSM913637

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048093G>A , CM000663.2:g.1048093G>A GRCh38
NC_000001.10:g.983473G>A , CM000663.1:g.983473G>A GRCh37
NC_000001.9:g.973336G>A NCBI36
NG_016346.1:g.32971G>A , LRG_198:g.32971G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3833G>A MANE Select ENSP00000368678.2:p.Arg1278His
ENST00000651234.1:c.3518G>A ENSP00000499046.1:p.Arg1173His
ENST00000652369.1:c.3518G>A ENSP00000498543.1:p.Arg1173His
ENST00000379370.6:c.3833G>A ENSP00000368678.2:p.Arg1278His
ENST00000620552.4:c.3419G>A ENSP00000484607.1:p.Arg1140His
NM_001305275.1:c.3833G>A NP_001292204.1:p.Arg1278His
NM_198576.3:c.3833G>A NP_940978.2:p.Arg1278His
XM_005244749.2:c.3833G>A XP_005244806.1:p.Arg1278His
XM_006710635.2:c.3833G>A XP_006710698.1:p.Arg1278His
XM_011541429.1:c.3833G>A XP_011539731.1:p.Arg1278His
XM_011541430.1:c.2960G>A XP_011539732.1:p.Arg987His
XM_011541431.1:c.2099G>A XP_011539733.1:p.Arg700His
XR_946650.1:n.3900G>A
NM_001364727.1:c.3518G>A NP_001351656.1:p.Arg1173His
XM_005244749.3:c.3833G>A XP_005244806.1:p.Arg1278His
XM_011541429.2:c.3833G>A XP_011539731.1:p.Arg1278His
XR_946650.2:n.3904G>A
NM_001305275.2:c.3833G>A NP_001292204.1:p.Arg1278His
NM_198576.4:c.3833G>A MANE Select NP_940978.2:p.Arg1278His
NM_001364727.2:c.3518G>A NP_001351656.1:p.Arg1173His