Canonical Allele Identifier: CA508673

Gene: AGRN

Linked Data

• ClinVar Variation Id: 263171
• ClinVar RCV Id: RCV000252843 ; RCV001552513
• dbSNP Id: rs183108359
• ExAC: 1:980948 C / T
• gnomAD v2: 1-980948-C-T
• gnomAD v3: 1-1045568-C-T
• gnomAD v4: 1-1045568-C-T
• MyVariant Identifiers: chr1:g.980948C>T (hg19) ; chr1:g.1045568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1045568C>T , CM000663.2:g.1045568C>T	GRCh38
NC_000001.10:g.980948C>T , CM000663.1:g.980948C>T	GRCh37
NC_000001.9:g.970811C>T	NCBI36
NG_016346.1:g.30446C>T , LRG_198:g.30446C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.2536+45C>T MANE Select	ENSP00000368678.2:n.2536+45C>T
ENST00000651234.1:c.2221+45C>T	ENSP00000499046.1:n.2221+45C>T
ENST00000652369.1:c.2221+45C>T	ENSP00000498543.1:n.2221+45C>T
ENST00000379370.6:c.2536+45C>T	ENSP00000368678.2:n.2536+45C>T
ENST00000479707.1:n.125+45C>T
ENST00000620552.4:c.2122+45C>T	ENSP00000484607.1:n.2122+45C>T
NM_001305275.1:c.2536+45C>T	NP_001292204.1:n.2536+45C>T
NM_198576.3:c.2536+45C>T	NP_940978.2:n.2536+45C>T
XM_005244749.2:c.2536+45C>T	XP_005244806.1:n.2536+45C>T
XM_006710635.2:c.2536+45C>T	XP_006710698.1:n.2536+45C>T
XM_011541429.1:c.2536+45C>T	XP_011539731.1:n.2536+45C>T
XM_011541430.1:c.1663+45C>T	XP_011539732.1:n.1663+45C>T
XM_011541431.1:c.802+45C>T	XP_011539733.1:n.802+45C>T
XR_946650.1:n.2603+45C>T
NM_001364727.1:c.2221+45C>T	NP_001351656.1:n.2221+45C>T
XM_005244749.3:c.2536+45C>T	XP_005244806.1:n.2536+45C>T
XM_011541429.2:c.2536+45C>T	XP_011539731.1:n.2536+45C>T
XR_946650.2:n.2607+45C>T
NM_001305275.2:c.2536+45C>T	NP_001292204.1:n.2536+45C>T
NM_198576.4:c.2536+45C>T MANE Select	NP_940978.2:n.2536+45C>T
NM_001364727.2:c.2221+45C>T	NP_001351656.1:n.2221+45C>T