Canonical Allele Identifier: CA337834455

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1490487
• ClinVar RCV Id: RCV002001771
• dbSNP Id: rs1246417325
• gnomAD v2: 1-979230-T-C
• gnomAD v4: 1-1043850-T-C
• MyVariant Identifiers: chr1:g.979230T>C (hg19) ; chr1:g.1043850T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043850T>C , CM000663.2:g.1043850T>C	GRCh38
NC_000001.10:g.979230T>C , CM000663.1:g.979230T>C	GRCh37
NC_000001.9:g.969093T>C	NCBI36
NG_016346.1:g.28728T>C , LRG_198:g.28728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1826T>C MANE Select	ENSP00000368678.2:p.Phe609Ser
ENST00000651234.1:c.1511T>C	ENSP00000499046.1:p.Phe504Ser
ENST00000652369.1:c.1511T>C	ENSP00000498543.1:p.Phe504Ser
ENST00000379370.6:c.1826T>C	ENSP00000368678.2:p.Phe609Ser
ENST00000620552.4:c.1412T>C	ENSP00000484607.1:p.Phe471Ser
NM_001305275.1:c.1826T>C	NP_001292204.1:p.Phe609Ser
NM_198576.3:c.1826T>C	NP_940978.2:p.Phe609Ser
XM_005244749.2:c.1826T>C	XP_005244806.1:p.Phe609Ser
XM_006710635.2:c.1826T>C	XP_006710698.1:p.Phe609Ser
XM_011541429.1:c.1826T>C	XP_011539731.1:p.Phe609Ser
XM_011541430.1:c.953T>C	XP_011539732.1:p.Phe318Ser
XM_011541431.1:c.92T>C	XP_011539733.1:p.Phe31Ser
XR_946650.1:n.1893T>C
NM_001364727.1:c.1511T>C	NP_001351656.1:p.Phe504Ser
XM_005244749.3:c.1826T>C	XP_005244806.1:p.Phe609Ser
XM_011541429.2:c.1826T>C	XP_011539731.1:p.Phe609Ser
XR_946650.2:n.1897T>C
NM_001305275.2:c.1826T>C	NP_001292204.1:p.Phe609Ser
NM_198576.4:c.1826T>C MANE Select	NP_940978.2:p.Phe609Ser
NM_001364727.2:c.1511T>C	NP_001351656.1:p.Phe504Ser