Canonical Allele Identifier: CA8601892
Gene: GRN HGNC NCBI
COSMIC:
COSN18740786 (not active)
COSN18740894 (not active)
COSN18741009 (not active)
COSN18741117 (not active)
MyVariant.info:
GRCh38 chr17:g.44350364G>A
GRCh37 chr17:g.42427732G>A
gnomAD v2:
17:42427732 G / A
gnomAD v3:
17:44350364 G / A
gnomAD v4:
chr17-44350364-G-A
Joint Max Group AF 0.49762665 (EAS)
Genomes Max Group AF 0.47344422 (EAS)
Exomes Max Group AF 0.49896182 (EAS)
ClinVar RCV:
RCV000675675
ClinVar Variation:
558917
dbSNP:
850713
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44350364G>A , CM000679.2:g.44350364G>A GRCh38
NC_000017.10:g.42427732G>A , CM000679.1:g.42427732G>A GRCh37
NC_000017.9:g.39783258G>A NCBI36
NG_007886.1:g.10242G>A , LRG_661:g.10242G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.462+24G>A MANE Select ENSP00000053867.2:n.462+24G>A
ENST00000639447.1:c.462+24G>A ENSP00000492014.1:n.462+24G>A
ENST00000053867.7:c.462+24G>A ENSP00000053867.2:n.462+24G>A
ENST00000586782.5:c.462+24G>A ENSP00000468318.1:n.462+24G>A
ENST00000587387.5:c.504+24G>A ENSP00000467431.1:n.504+24G>A
ENST00000588143.5:c.462+24G>A ENSP00000465375.1:n.462+24G>A
ENST00000588237.5:c.265-78G>A ENSP00000466611.1:n.265-78G>A
ENST00000589265.5:c.462+24G>A ENSP00000467616.1:n.462+24G>A
ENST00000590984.1:n.52+24G>A
NM_002087.3:c.462+24G>A NP_002078.1:n.462+24G>A
XM_005257253.1:c.462+24G>A XP_005257310.1:n.462+24G>A
XM_024450730.1:c.462+24G>A XP_024306498.1:n.462+24G>A
NM_002087.4:c.462+24G>A MANE Select NP_002078.1:n.462+24G>A
Search 100 bp 5'
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