Canonical Allele Identifier: CA16760355

Gene: AGRN

Linked Data

• ClinVar Variation Id: 2764475
• ClinVar RCV Id: RCV003583930
• dbSNP Id: rs1003669803
• gnomAD v2: 1-983620-A-G
• gnomAD v3: 1-1048240-A-G
• gnomAD v4: 1-1048240-A-G
• MyVariant Identifiers: chr1:g.983620A>G (hg19) ; chr1:g.1048240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048240A>G , CM000663.2:g.1048240A>G	GRCh38
NC_000001.10:g.983620A>G , CM000663.1:g.983620A>G	GRCh37
NC_000001.9:g.973483A>G	NCBI36
NG_016346.1:g.33118A>G , LRG_198:g.33118A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3980A>G MANE Select	ENSP00000368678.2:p.Gln1327Arg
ENST00000651234.1:c.3665A>G	ENSP00000499046.1:p.Gln1222Arg
ENST00000652369.1:c.3665A>G	ENSP00000498543.1:p.Gln1222Arg
ENST00000379370.6:c.3980A>G	ENSP00000368678.2:p.Gln1327Arg
ENST00000620552.4:c.3566A>G	ENSP00000484607.1:p.Gln1189Arg
NM_001305275.1:c.3980A>G	NP_001292204.1:p.Gln1327Arg
NM_198576.3:c.3980A>G	NP_940978.2:p.Gln1327Arg
XM_005244749.2:c.3980A>G	XP_005244806.1:p.Gln1327Arg
XM_006710635.2:c.3980A>G	XP_006710698.1:p.Gln1327Arg
XM_011541429.1:c.3980A>G	XP_011539731.1:p.Gln1327Arg
XM_011541430.1:c.3107A>G	XP_011539732.1:p.Gln1036Arg
XM_011541431.1:c.2246A>G	XP_011539733.1:p.Gln749Arg
XR_946650.1:n.4047A>G
NM_001364727.1:c.3665A>G	NP_001351656.1:p.Gln1222Arg
XM_005244749.3:c.3980A>G	XP_005244806.1:p.Gln1327Arg
XM_011541429.2:c.3980A>G	XP_011539731.1:p.Gln1327Arg
XR_946650.2:n.4051A>G
NM_001305275.2:c.3980A>G	NP_001292204.1:p.Gln1327Arg
NM_198576.4:c.3980A>G MANE Select	NP_940978.2:p.Gln1327Arg
NM_001364727.2:c.3665A>G	NP_001351656.1:p.Gln1222Arg