Canonical Allele Identifier: CA399765765
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1504720
ClinVar RCV Id: RCV002029010
dbSNP Id: rs1480952239
gnomAD v3: 17-44351696-G-C
gnomAD v4: 17-44351696-G-C
MyVariant Identifiers: chr17:g.42429064G>C (hg19) chr17:g.44351696G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351696G>C , CM000679.2:g.44351696G>C GRCh38
NC_000017.10:g.42429064G>C , CM000679.1:g.42429064G>C GRCh37
NC_000017.9:g.39784590G>C NCBI36
NG_007886.1:g.11574G>C , LRG_661:g.11574G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1080G>C MANE Select ENSP00000053867.2:p.Leu360Phe
ENST00000639447.1:c.1080G>C ENSP00000492014.1:p.Leu360Phe
ENST00000053867.7:c.1080G>C ENSP00000053867.2:p.Leu360Phe
ENST00000586443.1:c.521G>C
ENST00000589265.5:c.609G>C ENSP00000467616.1:p.Leu203Phe
ENST00000589923.1:n.338G>C
NM_002087.3:c.1080G>C NP_002078.1:p.Leu360Phe
XM_005257253.1:c.1080G>C XP_005257310.1:p.Leu360Phe
XM_024450730.1:c.1080G>C XP_024306498.1:p.Leu360Phe
NM_002087.4:c.1080G>C MANE Select NP_002078.1:p.Leu360Phe
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