Canonical Allele Identifier: CA151199
Gene: AGRN HGNC NCBI

Linked Data

ClinVar Variation Id: 126556
ClinVar RCV Id: RCV000114428 RCV000235030
dbSNP Id: rs587777299
gnomAD v4: 1-1041582-C-T
MyVariant Identifiers: chr1:g.976962C>T (hg19) chr1:g.1041582C>T (hg38)
PubMed: PMID:20301347 PMID:22205389
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1041582C>T , CM000663.2:g.1041582C>T GRCh38
NC_000001.10:g.976962C>T , CM000663.1:g.976962C>T GRCh37
NC_000001.9:g.966825C>T NCBI36
NG_016346.1:g.26460C>T , LRG_198:g.26460C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379370.7:c.1057C>T MANE Select ENSP00000368678.2:p.Gln353Ter
ENST00000651234.1:c.742C>T ENSP00000499046.1:p.Gln248Ter
ENST00000652369.1:c.742C>T ENSP00000498543.1:p.Gln248Ter
ENST00000379370.6:c.1057C>T ENSP00000368678.2:p.Gln353Ter
ENST00000620552.4:c.643C>T ENSP00000484607.1:p.Gln215Ter
NM_001305275.1:c.1057C>T NP_001292204.1:p.Gln353Ter
NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter
XM_005244749.2:c.1057C>T XP_005244806.1:p.Gln353Ter
XM_006710635.2:c.1057C>T XP_006710698.1:p.Gln353Ter
XM_011541429.1:c.1057C>T XP_011539731.1:p.Gln353Ter
XM_011541430.1:c.512-1657C>T XP_011539732.1:n.512-1657C>T
XR_946650.1:n.1124C>T
NM_001364727.1:c.742C>T NP_001351656.1:p.Gln248Ter
XM_005244749.3:c.1057C>T XP_005244806.1:p.Gln353Ter
XM_011541429.2:c.1057C>T XP_011539731.1:p.Gln353Ter
XR_946650.2:n.1128C>T
NM_001305275.2:c.1057C>T NP_001292204.1:p.Gln353Ter
NM_198576.4:c.1057C>T MANE Select NP_940978.2:p.Gln353Ter
NM_001364727.2:c.742C>T NP_001351656.1:p.Gln248Ter
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