Canonical Allele Identifier: CA500622207
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 763236
ClinVar RCV Id: RCV001438175
dbSNP Id: rs1472989013
gnomAD v2: 17-42429472-G-A
gnomAD v3: 17-44352104-G-A
gnomAD v4: 17-44352104-G-A
MyVariant Identifiers: chr17:g.42429472G>A (hg19) chr17:g.44352104G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352104G>A , CM000679.2:g.44352104G>A GRCh38
NC_000017.10:g.42429472G>A , CM000679.1:g.42429472G>A GRCh37
NC_000017.9:g.39784998G>A NCBI36
NG_007886.1:g.11982G>A , LRG_661:g.11982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1269G>A MANE Select ENSP00000053867.2:p.Val423=
ENST00000639447.1:c.1136+352G>A ENSP00000492014.1:n.1136+352G>A
ENST00000053867.7:c.1269G>A ENSP00000053867.2:p.Val423=
ENST00000586443.1:c.710G>A
ENST00000589265.5:c.798G>A ENSP00000467616.1:p.Val266=
NM_002087.3:c.1269G>A NP_002078.1:p.Val423=
XM_005257253.1:c.1269G>A XP_005257310.1:p.Val423=
XM_024450730.1:c.1269G>A XP_024306498.1:p.Val423=
NM_002087.4:c.1269G>A MANE Select NP_002078.1:p.Val423=
Search 100 bp 5'
Search 100 bp 3'