Canonical Allele Identifier: CA509279

Gene: AGRN

Linked Data

• ClinVar Variation Id: 474128
• ClinVar RCV Id: RCV000533178 ; RCV002285363 ; RCV002530232
• dbSNP Id: rs199680125
• ExAC: 1:983566 G / A
• gnomAD v2: 1-983566-G-A
• gnomAD v3: 1-1048186-G-A
• gnomAD v4: 1-1048186-G-A
• MyVariant Identifiers: chr1:g.983566G>A (hg19) ; chr1:g.1048186G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048186G>A , CM000663.2:g.1048186G>A	GRCh38
NC_000001.10:g.983566G>A , CM000663.1:g.983566G>A	GRCh37
NC_000001.9:g.973429G>A	NCBI36
NG_016346.1:g.33064G>A , LRG_198:g.33064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3926G>A MANE Select	ENSP00000368678.2:p.Arg1309Gln
ENST00000651234.1:c.3611G>A	ENSP00000499046.1:p.Arg1204Gln
ENST00000652369.1:c.3611G>A	ENSP00000498543.1:p.Arg1204Gln
ENST00000379370.6:c.3926G>A	ENSP00000368678.2:p.Arg1309Gln
ENST00000620552.4:c.3512G>A	ENSP00000484607.1:p.Arg1171Gln
NM_001305275.1:c.3926G>A	NP_001292204.1:p.Arg1309Gln
NM_198576.3:c.3926G>A	NP_940978.2:p.Arg1309Gln
XM_005244749.2:c.3926G>A	XP_005244806.1:p.Arg1309Gln
XM_006710635.2:c.3926G>A	XP_006710698.1:p.Arg1309Gln
XM_011541429.1:c.3926G>A	XP_011539731.1:p.Arg1309Gln
XM_011541430.1:c.3053G>A	XP_011539732.1:p.Arg1018Gln
XM_011541431.1:c.2192G>A	XP_011539733.1:p.Arg731Gln
XR_946650.1:n.3993G>A
NM_001364727.1:c.3611G>A	NP_001351656.1:p.Arg1204Gln
XM_005244749.3:c.3926G>A	XP_005244806.1:p.Arg1309Gln
XM_011541429.2:c.3926G>A	XP_011539731.1:p.Arg1309Gln
XR_946650.2:n.3997G>A
NM_001305275.2:c.3926G>A	NP_001292204.1:p.Arg1309Gln
NM_198576.4:c.3926G>A MANE Select	NP_940978.2:p.Arg1309Gln
NM_001364727.2:c.3611G>A	NP_001351656.1:p.Arg1204Gln