Canonical Allele Identifier: CA508354

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1014493
• ClinVar RCV Id: RCV001313234
• dbSNP Id: rs202090219
• ExAC: 1:979245 C / T
• gnomAD v2: 1-979245-C-T
• gnomAD v3: 1-1043865-C-T
• gnomAD v4: 1-1043865-C-T
• COSMIC: COSM5602764
• MyVariant Identifiers: chr1:g.979245C>T (hg19) ; chr1:g.1043865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043865C>T , CM000663.2:g.1043865C>T	GRCh38
NC_000001.10:g.979245C>T , CM000663.1:g.979245C>T	GRCh37
NC_000001.9:g.969108C>T	NCBI36
NG_016346.1:g.28743C>T , LRG_198:g.28743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1841C>T MANE Select	ENSP00000368678.2:p.Ser614Phe
ENST00000651234.1:c.1526C>T	ENSP00000499046.1:p.Ser509Phe
ENST00000652369.1:c.1526C>T	ENSP00000498543.1:p.Ser509Phe
ENST00000379370.6:c.1841C>T	ENSP00000368678.2:p.Ser614Phe
ENST00000620552.4:c.1427C>T	ENSP00000484607.1:p.Ser476Phe
NM_001305275.1:c.1841C>T	NP_001292204.1:p.Ser614Phe
NM_198576.3:c.1841C>T	NP_940978.2:p.Ser614Phe
XM_005244749.2:c.1841C>T	XP_005244806.1:p.Ser614Phe
XM_006710635.2:c.1841C>T	XP_006710698.1:p.Ser614Phe
XM_011541429.1:c.1841C>T	XP_011539731.1:p.Ser614Phe
XM_011541430.1:c.968C>T	XP_011539732.1:p.Ser323Phe
XM_011541431.1:c.107C>T	XP_011539733.1:p.Ser36Phe
XR_946650.1:n.1908C>T
NM_001364727.1:c.1526C>T	NP_001351656.1:p.Ser509Phe
XM_005244749.3:c.1841C>T	XP_005244806.1:p.Ser614Phe
XM_011541429.2:c.1841C>T	XP_011539731.1:p.Ser614Phe
XR_946650.2:n.1912C>T
NM_001305275.2:c.1841C>T	NP_001292204.1:p.Ser614Phe
NM_198576.4:c.1841C>T MANE Select	NP_940978.2:p.Ser614Phe
NM_001364727.2:c.1526C>T	NP_001351656.1:p.Ser509Phe