Canonical Allele Identifier: CA16760382
Gene: AGRN HGNC NCBI

Linked Data

ClinVar Variation Id: 593687
dbSNP Id: rs372543866
gnomAD v2: 1-983661-G-C
gnomAD v3: 1-1048281-G-C
gnomAD v4: 1-1048281-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048281G>C , CM000663.2:g.1048281G>C GRCh38
NC_000001.10:g.983661G>C , CM000663.1:g.983661G>C GRCh37
NC_000001.9:g.973524G>C NCBI36
NG_016346.1:g.33159G>C , LRG_198:g.33159G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.4021G>C MANE Select ENSP00000368678.2:p.Gly1341Arg
ENST00000651234.1:c.3706G>C ENSP00000499046.1:p.Gly1236Arg
ENST00000652369.1:c.3706G>C ENSP00000498543.1:p.Gly1236Arg
ENST00000379370.6:c.4021G>C ENSP00000368678.2:p.Gly1341Arg
ENST00000620552.4:c.3607G>C ENSP00000484607.1:p.Gly1203Arg
NM_001305275.1:c.4021G>C NP_001292204.1:p.Gly1341Arg
NM_198576.3:c.4021G>C NP_940978.2:p.Gly1341Arg
XM_005244749.2:c.4021G>C XP_005244806.1:p.Gly1341Arg
XM_006710635.2:c.4021G>C XP_006710698.1:p.Gly1341Arg
XM_011541429.1:c.4021G>C XP_011539731.1:p.Gly1341Arg
XM_011541430.1:c.3148G>C XP_011539732.1:p.Gly1050Arg
XM_011541431.1:c.2287G>C XP_011539733.1:p.Gly763Arg
XR_946650.1:n.4088G>C
NM_001364727.1:c.3706G>C NP_001351656.1:p.Gly1236Arg
XM_005244749.3:c.4021G>C XP_005244806.1:p.Gly1341Arg
XM_011541429.2:c.4021G>C XP_011539731.1:p.Gly1341Arg
XR_946650.2:n.4092G>C
NM_001305275.2:c.4021G>C NP_001292204.1:p.Gly1341Arg
NM_198576.4:c.4021G>C MANE Select NP_940978.2:p.Gly1341Arg
NM_001364727.2:c.3706G>C NP_001351656.1:p.Gly1236Arg