Canonical Allele Identifier: CA225330
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 98178
ClinVar RCV Id: RCV000084481 RCV000764131 RCV001122276 RCV001705812 RCV002514501
dbSNP Id: rs63751100
ExAC: 17:42429456 G / A
gnomAD v2: 17-42429456-G-A
gnomAD v3: 17-44352088-G-A
gnomAD v4: 17-44352088-G-A
MyVariant Identifiers: chr17:g.42429456G>A (hg19) chr17:g.44352088G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352088G>A , CM000679.2:g.44352088G>A GRCh38
NC_000017.10:g.42429456G>A , CM000679.1:g.42429456G>A GRCh37
NC_000017.9:g.39784982G>A NCBI36
NG_007886.1:g.11966G>A , LRG_661:g.11966G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1253G>A MANE Select ENSP00000053867.2:p.Arg418Gln
ENST00000639447.1:c.1136+336G>A ENSP00000492014.1:n.1136+336G>A
ENST00000053867.7:c.1253G>A ENSP00000053867.2:p.Arg418Gln
ENST00000586443.1:c.694G>A
ENST00000589265.5:c.782G>A ENSP00000467616.1:p.Arg261Gln
NM_002087.3:c.1253G>A NP_002078.1:p.Arg418Gln
XM_005257253.1:c.1253G>A XP_005257310.1:p.Arg418Gln
XM_024450730.1:c.1253G>A XP_024306498.1:p.Arg418Gln
NM_002087.4:c.1253G>A MANE Select NP_002078.1:p.Arg418Gln
Search 100 bp 5'
Search 100 bp 3'