Canonical Allele Identifier: CA8602098

Gene: GRN

Linked Data

• ClinVar Variation Id: 2923646
• ClinVar RCV Id: RCV003783204
• dbSNP Id: rs777989653
• ExAC: 17:42429076 C / T
• gnomAD v2: 17-42429076-C-T
• gnomAD v3: 17-44351708-C-T
• gnomAD v4: 17-44351708-C-T
• MyVariant Identifiers: chr17:g.42429076C>T (hg19) ; chr17:g.44351708C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351708C>T , CM000679.2:g.44351708C>T	GRCh38
NC_000017.10:g.42429076C>T , CM000679.1:g.42429076C>T	GRCh37
NC_000017.9:g.39784602C>T	NCBI36
NG_007886.1:g.11586C>T , LRG_661:g.11586C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1092C>T MANE Select	ENSP00000053867.2:p.Val364=
ENST00000639447.1:c.1092C>T	ENSP00000492014.1:p.Val364=
ENST00000053867.7:c.1092C>T	ENSP00000053867.2:p.Val364=
ENST00000586443.1:c.533C>T
ENST00000589265.5:c.621C>T	ENSP00000467616.1:p.Val207=
ENST00000589923.1:n.350C>T
NM_002087.3:c.1092C>T	NP_002078.1:p.Val364=
XM_005257253.1:c.1092C>T	XP_005257310.1:p.Val364=
XM_024450730.1:c.1092C>T	XP_024306498.1:p.Val364=
NM_002087.4:c.1092C>T MANE Select	NP_002078.1:p.Val364=