Canonical Allele Identifier: CA8602092
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2048541
ClinVar RCV Id: RCV002931932
dbSNP Id: rs766695616
ExAC: 17:42429025 G / A
gnomAD v2: 17-42429025-G-A
gnomAD v3: 17-44351657-G-A
gnomAD v4: 17-44351657-G-A
MyVariant Identifiers: chr17:g.42429025G>A (hg19) chr17:g.44351657G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351657G>A , CM000679.2:g.44351657G>A GRCh38
NC_000017.10:g.42429025G>A , CM000679.1:g.42429025G>A GRCh37
NC_000017.9:g.39784551G>A NCBI36
NG_007886.1:g.11535G>A , LRG_661:g.11535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1041G>A MANE Select ENSP00000053867.2:p.Lys347=
ENST00000639447.1:c.1041G>A ENSP00000492014.1:p.Lys347=
ENST00000053867.7:c.1041G>A ENSP00000053867.2:p.Lys347=
ENST00000586443.1:c.482G>A
ENST00000589265.5:c.570G>A ENSP00000467616.1:p.Lys190=
ENST00000589923.1:n.299G>A
NM_002087.3:c.1041G>A NP_002078.1:p.Lys347=
XM_005257253.1:c.1041G>A XP_005257310.1:p.Lys347=
XM_024450730.1:c.1041G>A XP_024306498.1:p.Lys347=
NM_002087.4:c.1041G>A MANE Select NP_002078.1:p.Lys347=
Search 100 bp 5'
Search 100 bp 3'