Canonical Allele Identifier: CA509590

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1462496
• ClinVar RCV Id: RCV001985705
• dbSNP Id: rs759402291
• ExAC: 1:985194 C / T
• gnomAD v2: 1-985194-C-T
• gnomAD v3: 1-1049814-C-T
• gnomAD v4: 1-1049814-C-T
• MyVariant Identifiers: chr1:g.985194C>T (hg19) ; chr1:g.1049814C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049814C>T , CM000663.2:g.1049814C>T	GRCh38
NC_000001.10:g.985194C>T , CM000663.1:g.985194C>T	GRCh37
NC_000001.9:g.975057C>T	NCBI36
NG_016346.1:g.34692C>T , LRG_198:g.34692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4744+19C>T MANE Select	ENSP00000368678.2:n.4744+19C>T
ENST00000651234.1:c.4429+19C>T	ENSP00000499046.1:n.4429+19C>T
ENST00000652369.1:c.4429+19C>T	ENSP00000498543.1:n.4429+19C>T
ENST00000379370.6:c.4744+19C>T	ENSP00000368678.2:n.4744+19C>T
ENST00000620552.4:c.4330+19C>T	ENSP00000484607.1:n.4330+19C>T
NM_001305275.1:c.4744+19C>T	NP_001292204.1:n.4744+19C>T
NM_198576.3:c.4744+19C>T	NP_940978.2:n.4744+19C>T
XM_005244749.2:c.4744+19C>T	XP_005244806.1:n.4744+19C>T
XM_006710635.2:c.4744+19C>T	XP_006710698.1:n.4744+19C>T
XM_011541429.1:c.4744+19C>T	XP_011539731.1:n.4744+19C>T
XM_011541430.1:c.3871+19C>T	XP_011539732.1:n.3871+19C>T
XM_011541431.1:c.3010+19C>T	XP_011539733.1:n.3010+19C>T
XR_946650.1:n.4811+19C>T
NM_001364727.1:c.4429+19C>T	NP_001351656.1:n.4429+19C>T
XM_005244749.3:c.4744+19C>T	XP_005244806.1:n.4744+19C>T
XM_011541429.2:c.4744+19C>T	XP_011539731.1:n.4744+19C>T
XR_946650.2:n.4815+19C>T
NM_001305275.2:c.4744+19C>T	NP_001292204.1:n.4744+19C>T
NM_198576.4:c.4744+19C>T MANE Select	NP_940978.2:n.4744+19C>T
NM_001364727.2:c.4429+19C>T	NP_001351656.1:n.4429+19C>T