Canonical Allele Identifier: CA507784
Gene: AGRN HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.1022225G>A
GRCh37 chr1:g.957605G>A
Revel Score:
ENST00000379370 (MANE Select) 0.796
gnomAD v2:
1:957605 G / A
gnomAD v4:
chr1-1022225-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000235037
RCV001377978
ClinVar Variation:
243036
dbSNP:
756623659
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1022225G>A , CM000663.2:g.1022225G>A GRCh38
NC_000001.10:g.957605G>A , CM000663.1:g.957605G>A GRCh37
NC_000001.9:g.947468G>A NCBI36
NG_016346.1:g.7103G>A , LRG_198:g.7103G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.226G>A MANE Select ENSP00000368678.2:p.Gly76Ser
ENST00000379370.6:c.226G>A ENSP00000368678.2:p.Gly76Ser
ENST00000620552.4:c.-189G>A ENSP00000484607.1:n.-189G>A
NM_001305275.1:c.226G>A NP_001292204.1:p.Gly76Ser
NM_198576.3:c.226G>A NP_940978.2:p.Gly76Ser
XM_005244749.2:c.226G>A XP_005244806.1:p.Gly76Ser
XM_006710635.2:c.226G>A XP_006710698.1:p.Gly76Ser
XM_011541429.1:c.226G>A XP_011539731.1:p.Gly76Ser
XM_011541430.1:c.226G>A XP_011539732.1:p.Gly76Ser
XR_946650.1:n.293G>A
XM_005244749.3:c.226G>A XP_005244806.1:p.Gly76Ser
XM_011541429.2:c.226G>A XP_011539731.1:p.Gly76Ser
XR_946650.2:n.297G>A
NM_001305275.2:c.226G>A NP_001292204.1:p.Gly76Ser
NM_198576.4:c.226G>A MANE Select NP_940978.2:p.Gly76Ser
Search 100 bp 5'
Search 100 bp 3'