Canonical Allele Identifier: CA2642490961
Gene: AGRN HGNC NCBI

Linked Data

gnomAD v4: 1-1044065-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1044065T>C , CM000663.2:g.1044065T>C GRCh38
NC_000001.10:g.979445T>C , CM000663.1:g.979445T>C GRCh37
NC_000001.9:g.969308T>C NCBI36
NG_016346.1:g.28943T>C , LRG_198:g.28943T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.1999+42T>C MANE Select ENSP00000368678.2:n.1999+42T>C
ENST00000651234.1:c.1684+42T>C ENSP00000499046.1:n.1684+42T>C
ENST00000652369.1:c.1684+42T>C ENSP00000498543.1:n.1684+42T>C
ENST00000379370.6:c.1999+42T>C ENSP00000368678.2:n.1999+42T>C
ENST00000620552.4:c.1585+42T>C ENSP00000484607.1:n.1585+42T>C
NM_001305275.1:c.1999+42T>C NP_001292204.1:n.1999+42T>C
NM_198576.3:c.1999+42T>C NP_940978.2:n.1999+42T>C
XM_005244749.2:c.1999+42T>C XP_005244806.1:n.1999+42T>C
XM_006710635.2:c.1999+42T>C XP_006710698.1:n.1999+42T>C
XM_011541429.1:c.1999+42T>C XP_011539731.1:n.1999+42T>C
XM_011541430.1:c.1126+42T>C XP_011539732.1:n.1126+42T>C
XM_011541431.1:c.265+42T>C XP_011539733.1:n.265+42T>C
XR_946650.1:n.2066+42T>C
NM_001364727.1:c.1684+42T>C NP_001351656.1:n.1684+42T>C
XM_005244749.3:c.1999+42T>C XP_005244806.1:n.1999+42T>C
XM_011541429.2:c.1999+42T>C XP_011539731.1:n.1999+42T>C
XR_946650.2:n.2070+42T>C
NM_001305275.2:c.1999+42T>C NP_001292204.1:n.1999+42T>C
NM_198576.4:c.1999+42T>C MANE Select NP_940978.2:n.1999+42T>C
NM_001364727.2:c.1684+42T>C NP_001351656.1:n.1684+42T>C