Canonical Allele Identifier: CA509652

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1417342
• ClinVar RCV Id: RCV001938299
• dbSNP Id: rs772811721
• ExAC: 1:985349 G / A
• gnomAD v2: 1-985349-G-A
• gnomAD v3: 1-1049969-G-A
• gnomAD v4: 1-1049969-G-A
• MyVariant Identifiers: chr1:g.985349G>A (hg19) ; chr1:g.1049969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049969G>A , CM000663.2:g.1049969G>A	GRCh38
NC_000001.10:g.985349G>A , CM000663.1:g.985349G>A	GRCh37
NC_000001.9:g.975212G>A	NCBI36
NG_016346.1:g.34847G>A , LRG_198:g.34847G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.4811G>A MANE Select	ENSP00000368678.2:p.Arg1604His
ENST00000651234.1:c.4496G>A	ENSP00000499046.1:p.Arg1499His
ENST00000652369.1:c.4496G>A	ENSP00000498543.1:p.Arg1499His
ENST00000379370.6:c.4811G>A	ENSP00000368678.2:p.Arg1604His
ENST00000620552.4:c.4397G>A	ENSP00000484607.1:p.Arg1466His
NM_001305275.1:c.4811G>A	NP_001292204.1:p.Arg1604His
NM_198576.3:c.4811G>A	NP_940978.2:p.Arg1604His
XM_005244749.2:c.4811G>A	XP_005244806.1:p.Arg1604His
XM_006710635.2:c.4811G>A	XP_006710698.1:p.Arg1604His
XM_011541429.1:c.4811G>A	XP_011539731.1:p.Arg1604His
XM_011541430.1:c.3938G>A	XP_011539732.1:p.Arg1313His
XM_011541431.1:c.3077G>A	XP_011539733.1:p.Arg1026His
XR_946650.1:n.4878G>A
NM_001364727.1:c.4496G>A	NP_001351656.1:p.Arg1499His
XM_005244749.3:c.4811G>A	XP_005244806.1:p.Arg1604His
XM_011541429.2:c.4811G>A	XP_011539731.1:p.Arg1604His
XR_946650.2:n.4882G>A
NM_001305275.2:c.4811G>A	NP_001292204.1:p.Arg1604His
NM_198576.4:c.4811G>A MANE Select	NP_940978.2:p.Arg1604His
NM_001364727.2:c.4496G>A	NP_001351656.1:p.Arg1499His