Canonical Allele Identifier: CA520658915
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs757759138
gnomAD v2: 1-979411-G-T
gnomAD v4: 1-1044031-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1044031G>T , CM000663.2:g.1044031G>T GRCh38
NC_000001.10:g.979411G>T , CM000663.1:g.979411G>T GRCh37
NC_000001.9:g.969274G>T NCBI36
NG_016346.1:g.28909G>T , LRG_198:g.28909G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.1999+8G>T MANE Select ENSP00000368678.2:n.1999+8G>T
ENST00000651234.1:c.1684+8G>T ENSP00000499046.1:n.1684+8G>T
ENST00000652369.1:c.1684+8G>T ENSP00000498543.1:n.1684+8G>T
ENST00000379370.6:c.1999+8G>T ENSP00000368678.2:n.1999+8G>T
ENST00000620552.4:c.1585+8G>T ENSP00000484607.1:n.1585+8G>T
NM_001305275.1:c.1999+8G>T NP_001292204.1:n.1999+8G>T
NM_198576.3:c.1999+8G>T NP_940978.2:n.1999+8G>T
XM_005244749.2:c.1999+8G>T XP_005244806.1:n.1999+8G>T
XM_006710635.2:c.1999+8G>T XP_006710698.1:n.1999+8G>T
XM_011541429.1:c.1999+8G>T XP_011539731.1:n.1999+8G>T
XM_011541430.1:c.1126+8G>T XP_011539732.1:n.1126+8G>T
XM_011541431.1:c.265+8G>T XP_011539733.1:n.265+8G>T
XR_946650.1:n.2066+8G>T
NM_001364727.1:c.1684+8G>T NP_001351656.1:n.1684+8G>T
XM_005244749.3:c.1999+8G>T XP_005244806.1:n.1999+8G>T
XM_011541429.2:c.1999+8G>T XP_011539731.1:n.1999+8G>T
XR_946650.2:n.2070+8G>T
NM_001305275.2:c.1999+8G>T NP_001292204.1:n.1999+8G>T
NM_198576.4:c.1999+8G>T MANE Select NP_940978.2:n.1999+8G>T
NM_001364727.2:c.1684+8G>T NP_001351656.1:n.1684+8G>T