Canonical Allele Identifier: CA507777

Gene: AGRN

Linked Data

• ClinVar Variation Id: 263166
• ClinVar RCV Id: RCV000250556 ; RCV002058480
• dbSNP Id: rs115704555
• ExAC: 1:957568 A / G
• gnomAD v2: 1-957568-A-G
• gnomAD v3: 1-1022188-A-G
• gnomAD v4: 1-1022188-A-G
• MyVariant Identifiers: chr1:g.957568A>G (hg19) ; chr1:g.1022188A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1022188A>G , CM000663.2:g.1022188A>G	GRCh38
NC_000001.10:g.957568A>G , CM000663.1:g.957568A>G	GRCh37
NC_000001.9:g.947431A>G	NCBI36
NG_016346.1:g.7066A>G , LRG_198:g.7066A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.202-13A>G MANE Select	ENSP00000368678.2:n.202-13A>G
ENST00000379370.6:c.202-13A>G	ENSP00000368678.2:n.202-13A>G
ENST00000620552.4:c.-213-13A>G	ENSP00000484607.1:n.-213-13A>G
NM_001305275.1:c.202-13A>G	NP_001292204.1:n.202-13A>G
NM_198576.3:c.202-13A>G	NP_940978.2:n.202-13A>G
XM_005244749.2:c.202-13A>G	XP_005244806.1:n.202-13A>G
XM_006710635.2:c.202-13A>G	XP_006710698.1:n.202-13A>G
XM_011541429.1:c.202-13A>G	XP_011539731.1:n.202-13A>G
XM_011541430.1:c.202-13A>G	XP_011539732.1:n.202-13A>G
XR_946650.1:n.269-13A>G
XM_005244749.3:c.202-13A>G	XP_005244806.1:n.202-13A>G
XM_011541429.2:c.202-13A>G	XP_011539731.1:n.202-13A>G
XR_946650.2:n.273-13A>G
NM_001305275.2:c.202-13A>G	NP_001292204.1:n.202-13A>G
NM_198576.4:c.202-13A>G MANE Select	NP_940978.2:n.202-13A>G