Canonical Allele Identifier: CA8602174
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2935223
ClinVar RCV Id: RCV003790877
dbSNP Id: rs776948319
ExAC: 17:42429540 A / T
gnomAD v2: 17-42429540-A-T
gnomAD v4: 17-44352172-A-T
MyVariant Identifiers: chr17:g.42429540A>T (hg19) chr17:g.44352172A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352172A>T , CM000679.2:g.44352172A>T GRCh38
NC_000017.10:g.42429540A>T , CM000679.1:g.42429540A>T GRCh37
NC_000017.9:g.39785066A>T NCBI36
NG_007886.1:g.12050A>T , LRG_661:g.12050A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1337A>T MANE Select ENSP00000053867.2:p.Gln446Leu
ENST00000639447.1:c.1137-357A>T ENSP00000492014.1:n.1137-357A>T
ENST00000053867.7:c.1337A>T ENSP00000053867.2:p.Gln446Leu
ENST00000586443.1:c.778A>T
ENST00000589265.5:c.866A>T ENSP00000467616.1:p.Gln289Leu
NM_002087.3:c.1337A>T NP_002078.1:p.Gln446Leu
XM_005257253.1:c.1337A>T XP_005257310.1:p.Gln446Leu
XM_024450730.1:c.1337A>T XP_024306498.1:p.Gln446Leu
NM_002087.4:c.1337A>T MANE Select NP_002078.1:p.Gln446Leu
Search 100 bp 5'
Search 100 bp 3'