Canonical Allele Identifier: CA8602202
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2009305
ClinVar RCV Id: RCV002838281
dbSNP Id: rs375688392
ExAC: 17:42429703 C / T
gnomAD v2: 17-42429703-C-T
gnomAD v3: 17-44352335-C-T
gnomAD v4: 17-44352335-C-T
MyVariant Identifiers: chr17:g.42429703C>T (hg19) chr17:g.44352335C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352335C>T , CM000679.2:g.44352335C>T GRCh38
NC_000017.10:g.42429703C>T , CM000679.1:g.42429703C>T GRCh37
NC_000017.9:g.39785229C>T NCBI36
NG_007886.1:g.12213C>T , LRG_661:g.12213C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1414-6C>T MANE Select ENSP00000053867.2:n.1414-6C>T
ENST00000639447.1:c.1137-194C>T ENSP00000492014.1:n.1137-194C>T
ENST00000053867.7:c.1414-6C>T ENSP00000053867.2:n.1414-6C>T
ENST00000586242.1:c.48-6C>T
ENST00000586443.1:c.855-6C>T
ENST00000589265.5:c.943-6C>T ENSP00000467616.1:n.943-6C>T
NM_002087.3:c.1414-6C>T NP_002078.1:n.1414-6C>T
XM_005257253.1:c.1414-6C>T XP_005257310.1:n.1414-6C>T
XM_024450730.1:c.1414-6C>T XP_024306498.1:n.1414-6C>T
NM_002087.4:c.1414-6C>T MANE Select NP_002078.1:n.1414-6C>T
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