Canonical Allele Identifier: CA337779242
Gene: AGRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1466058
ClinVar RCV Id: RCV001959408
dbSNP Id: rs931498089
gnomAD v4: 1-1049779-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1049779C>G , CM000663.2:g.1049779C>G GRCh38
NC_000001.10:g.985159C>G , CM000663.1:g.985159C>G GRCh37
NC_000001.9:g.975022C>G NCBI36
NG_016346.1:g.34657C>G , LRG_198:g.34657C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.4728C>G MANE Select ENSP00000368678.2:p.Cys1576Trp
ENST00000651234.1:c.4413C>G ENSP00000499046.1:p.Cys1471Trp
ENST00000652369.1:c.4413C>G ENSP00000498543.1:p.Cys1471Trp
ENST00000379370.6:c.4728C>G ENSP00000368678.2:p.Cys1576Trp
ENST00000620552.4:c.4314C>G ENSP00000484607.1:p.Cys1438Trp
NM_001305275.1:c.4728C>G NP_001292204.1:p.Cys1576Trp
NM_198576.3:c.4728C>G NP_940978.2:p.Cys1576Trp
XM_005244749.2:c.4728C>G XP_005244806.1:p.Cys1576Trp
XM_006710635.2:c.4728C>G XP_006710698.1:p.Cys1576Trp
XM_011541429.1:c.4728C>G XP_011539731.1:p.Cys1576Trp
XM_011541430.1:c.3855C>G XP_011539732.1:p.Cys1285Trp
XM_011541431.1:c.2994C>G XP_011539733.1:p.Cys998Trp
XR_946650.1:n.4795C>G
NM_001364727.1:c.4413C>G NP_001351656.1:p.Cys1471Trp
XM_005244749.3:c.4728C>G XP_005244806.1:p.Cys1576Trp
XM_011541429.2:c.4728C>G XP_011539731.1:p.Cys1576Trp
XR_946650.2:n.4799C>G
NM_001305275.2:c.4728C>G NP_001292204.1:p.Cys1576Trp
NM_198576.4:c.4728C>G MANE Select NP_940978.2:p.Cys1576Trp
NM_001364727.2:c.4413C>G NP_001351656.1:p.Cys1471Trp