Canonical Allele Identifier: CA415758194
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1645155187
gnomAD v3: 1-1048130-C-T
gnomAD v4: 1-1048130-C-T
MyVariant Identifiers: chr1:g.983510C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048130C>T , CM000663.2:g.1048130C>T GRCh38
NC_000001.10:g.983510C>T , CM000663.1:g.983510C>T GRCh37
NC_000001.9:g.973373C>T NCBI36
NG_016346.1:g.33008C>T , LRG_198:g.33008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3870C>T MANE Select ENSP00000368678.2:p.His1290=
ENST00000651234.1:c.3555C>T ENSP00000499046.1:p.His1185=
ENST00000652369.1:c.3555C>T ENSP00000498543.1:p.His1185=
ENST00000379370.6:c.3870C>T ENSP00000368678.2:p.His1290=
ENST00000620552.4:c.3456C>T ENSP00000484607.1:p.His1152=
NM_001305275.1:c.3870C>T NP_001292204.1:p.His1290=
NM_198576.3:c.3870C>T NP_940978.2:p.His1290=
XM_005244749.2:c.3870C>T XP_005244806.1:p.His1290=
XM_006710635.2:c.3870C>T XP_006710698.1:p.His1290=
XM_011541429.1:c.3870C>T XP_011539731.1:p.His1290=
XM_011541430.1:c.2997C>T XP_011539732.1:p.His999=
XM_011541431.1:c.2136C>T XP_011539733.1:p.His712=
XR_946650.1:n.3937C>T
NM_001364727.1:c.3555C>T NP_001351656.1:p.His1185=
XM_005244749.3:c.3870C>T XP_005244806.1:p.His1290=
XM_011541429.2:c.3870C>T XP_011539731.1:p.His1290=
XR_946650.2:n.3941C>T
NM_001305275.2:c.3870C>T NP_001292204.1:p.His1290=
NM_198576.4:c.3870C>T MANE Select NP_940978.2:p.His1290=
NM_001364727.2:c.3555C>T NP_001351656.1:p.His1185=