Canonical Allele Identifier: CA290926750
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2262853
ClinVar RCV Id: RCV002792771 RCV003777769
dbSNP Id: rs920618508
gnomAD v2: 17-42429498-G-A
gnomAD v3: 17-44352130-G-A
gnomAD v4: 17-44352130-G-A
MyVariant Identifiers: chr17:g.42429498G>A (hg19) chr17:g.44352130G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352130G>A , CM000679.2:g.44352130G>A GRCh38
NC_000017.10:g.42429498G>A , CM000679.1:g.42429498G>A GRCh37
NC_000017.9:g.39785024G>A NCBI36
NG_007886.1:g.12008G>A , LRG_661:g.12008G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1295G>A MANE Select ENSP00000053867.2:p.Arg432His
ENST00000639447.1:c.1136+378G>A ENSP00000492014.1:n.1136+378G>A
ENST00000053867.7:c.1295G>A ENSP00000053867.2:p.Arg432His
ENST00000586443.1:c.736G>A
ENST00000589265.5:c.824G>A ENSP00000467616.1:p.Arg275His
NM_002087.3:c.1295G>A NP_002078.1:p.Arg432His
XM_005257253.1:c.1295G>A XP_005257310.1:p.Arg432His
XM_024450730.1:c.1295G>A XP_024306498.1:p.Arg432His
NM_002087.4:c.1295G>A MANE Select NP_002078.1:p.Arg432His
Search 100 bp 5'
Search 100 bp 3'