Canonical Allele Identifier: CA997652034
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1645014898
gnomAD v3: 1-1043817-C-T
gnomAD v4: 1-1043817-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1043817C>T , CM000663.2:g.1043817C>T GRCh38
NC_000001.10:g.979197C>T , CM000663.1:g.979197C>T GRCh37
NC_000001.9:g.969060C>T NCBI36
NG_016346.1:g.28695C>T , LRG_198:g.28695C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.1799-6C>T MANE Select ENSP00000368678.2:n.1799-6C>T
ENST00000651234.1:c.1484-6C>T ENSP00000499046.1:n.1484-6C>T
ENST00000652369.1:c.1484-6C>T ENSP00000498543.1:n.1484-6C>T
ENST00000379370.6:c.1799-6C>T ENSP00000368678.2:n.1799-6C>T
ENST00000620552.4:c.1385-6C>T ENSP00000484607.1:n.1385-6C>T
NM_001305275.1:c.1799-6C>T NP_001292204.1:n.1799-6C>T
NM_198576.3:c.1799-6C>T NP_940978.2:n.1799-6C>T
XM_005244749.2:c.1799-6C>T XP_005244806.1:n.1799-6C>T
XM_006710635.2:c.1799-6C>T XP_006710698.1:n.1799-6C>T
XM_011541429.1:c.1799-6C>T XP_011539731.1:n.1799-6C>T
XM_011541430.1:c.926-6C>T XP_011539732.1:n.926-6C>T
XM_011541431.1:c.65-6C>T XP_011539733.1:n.65-6C>T
XR_946650.1:n.1866-6C>T
NM_001364727.1:c.1484-6C>T NP_001351656.1:n.1484-6C>T
XM_005244749.3:c.1799-6C>T XP_005244806.1:n.1799-6C>T
XM_011541429.2:c.1799-6C>T XP_011539731.1:n.1799-6C>T
XR_946650.2:n.1870-6C>T
NM_001305275.2:c.1799-6C>T NP_001292204.1:n.1799-6C>T
NM_198576.4:c.1799-6C>T MANE Select NP_940978.2:n.1799-6C>T
NM_001364727.2:c.1484-6C>T NP_001351656.1:n.1484-6C>T