Canonical Allele Identifier: CA508809

Gene: AGRN

Linked Data

• ClinVar Variation Id: 434107
• ClinVar RCV Id: RCV000548272 ; RCV000500875 ; RCV003311829
• dbSNP Id: rs190000918
• ExAC: 1:981475 G / A
• gnomAD v2: 1-981475-G-A
• gnomAD v3: 1-1046095-G-A
• gnomAD v4: 1-1046095-G-A
• MyVariant Identifiers: chr1:g.981475G>A (hg19) ; chr1:g.1046095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1046095G>A , CM000663.2:g.1046095G>A	GRCh38
NC_000001.10:g.981475G>A , CM000663.1:g.981475G>A	GRCh37
NC_000001.9:g.971338G>A	NCBI36
NG_016346.1:g.30973G>A , LRG_198:g.30973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.2805+7G>A MANE Select	ENSP00000368678.2:n.2805+7G>A
ENST00000651234.1:c.2490+7G>A	ENSP00000499046.1:n.2490+7G>A
ENST00000652369.1:c.2490+7G>A	ENSP00000498543.1:n.2490+7G>A
ENST00000379370.6:c.2805+7G>A	ENSP00000368678.2:n.2805+7G>A
ENST00000479707.1:n.394+7G>A
ENST00000620552.4:c.2391+7G>A	ENSP00000484607.1:n.2391+7G>A
NM_001305275.1:c.2805+7G>A	NP_001292204.1:n.2805+7G>A
NM_198576.3:c.2805+7G>A	NP_940978.2:n.2805+7G>A
XM_005244749.2:c.2805+7G>A	XP_005244806.1:n.2805+7G>A
XM_006710635.2:c.2805+7G>A	XP_006710698.1:n.2805+7G>A
XM_011541429.1:c.2805+7G>A	XP_011539731.1:n.2805+7G>A
XM_011541430.1:c.1932+7G>A	XP_011539732.1:n.1932+7G>A
XM_011541431.1:c.1071+7G>A	XP_011539733.1:n.1071+7G>A
XR_946650.1:n.2872+7G>A
NM_001364727.1:c.2490+7G>A	NP_001351656.1:n.2490+7G>A
XM_005244749.3:c.2805+7G>A	XP_005244806.1:n.2805+7G>A
XM_011541429.2:c.2805+7G>A	XP_011539731.1:n.2805+7G>A
XR_946650.2:n.2876+7G>A
NM_001305275.2:c.2805+7G>A	NP_001292204.1:n.2805+7G>A
NM_198576.4:c.2805+7G>A MANE Select	NP_940978.2:n.2805+7G>A
NM_001364727.2:c.2490+7G>A	NP_001351656.1:n.2490+7G>A