Canonical Allele Identifier: CA509584

Gene: AGRN

Linked Data

• ClinVar Variation Id: 2052665
• ClinVar RCV Id: RCV002918877 ; RCV002937618
• dbSNP Id: rs780013869
• ExAC: 1:985170 G / A
• gnomAD v2: 1-985170-G-A
• gnomAD v3: 1-1049790-G-A
• gnomAD v4: 1-1049790-G-A
• MyVariant Identifiers: chr1:g.985170G>A (hg19) ; chr1:g.1049790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049790G>A , CM000663.2:g.1049790G>A	GRCh38
NC_000001.10:g.985170G>A , CM000663.1:g.985170G>A	GRCh37
NC_000001.9:g.975033G>A	NCBI36
NG_016346.1:g.34668G>A , LRG_198:g.34668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4739G>A MANE Select	ENSP00000368678.2:p.Arg1580His
ENST00000651234.1:c.4424G>A	ENSP00000499046.1:p.Arg1475His
ENST00000652369.1:c.4424G>A	ENSP00000498543.1:p.Arg1475His
ENST00000379370.6:c.4739G>A	ENSP00000368678.2:p.Arg1580His
ENST00000620552.4:c.4325G>A	ENSP00000484607.1:p.Arg1442His
NM_001305275.1:c.4739G>A	NP_001292204.1:p.Arg1580His
NM_198576.3:c.4739G>A	NP_940978.2:p.Arg1580His
XM_005244749.2:c.4739G>A	XP_005244806.1:p.Arg1580His
XM_006710635.2:c.4739G>A	XP_006710698.1:p.Arg1580His
XM_011541429.1:c.4739G>A	XP_011539731.1:p.Arg1580His
XM_011541430.1:c.3866G>A	XP_011539732.1:p.Arg1289His
XM_011541431.1:c.3005G>A	XP_011539733.1:p.Arg1002His
XR_946650.1:n.4806G>A
NM_001364727.1:c.4424G>A	NP_001351656.1:p.Arg1475His
XM_005244749.3:c.4739G>A	XP_005244806.1:p.Arg1580His
XM_011541429.2:c.4739G>A	XP_011539731.1:p.Arg1580His
XR_946650.2:n.4810G>A
NM_001305275.2:c.4739G>A	NP_001292204.1:p.Arg1580His
NM_198576.4:c.4739G>A MANE Select	NP_940978.2:p.Arg1580His
NM_001364727.2:c.4424G>A	NP_001351656.1:p.Arg1475His