Canonical Allele Identifier: CA4813314

Gene: INTS8

Linked Data

• ClinVar Variation Id: 2404663
• ClinVar RCV Id: RCV004241452
• dbSNP Id: rs758426501
• ExAC: 8:95840002 G / A
• gnomAD v2: 8-95840002-G-A
• gnomAD v3: 8-94827774-G-A
• gnomAD v4: 8-94827774-G-A
• MyVariant Identifiers: chr8:g.95840002G>A (hg19) ; chr8:g.94827774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827774G>A , CM000670.2:g.94827774G>A	GRCh38
NC_000008.10:g.95840002G>A , CM000670.1:g.95840002G>A	GRCh37
NC_000008.9:g.95909178G>A	NCBI36
NG_047163.1:g.19464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.499G>A MANE Select	ENSP00000430338.1:p.Gly167Arg
ENST00000343161.8:c.499G>A	ENSP00000343274.4:p.Gly167Arg
ENST00000519053.5:c.172G>A	ENSP00000429056.1:p.Gly58Arg
ENST00000519457.5:c.358G>A	ENSP00000428260.1:p.Gly120Arg
ENST00000521860.5:c.461G>A
ENST00000522171.5:c.376G>A	ENSP00000429340.1:p.Gly126Arg
ENST00000523206.5:c.499G>A	ENSP00000429452.1:p.Gly167Arg
ENST00000523321.5:n.624G>A
ENST00000523731.5:c.499G>A	ENSP00000430338.1:p.Gly167Arg
ENST00000524333.5:c.499G>A	ENSP00000427840.1:p.Gly167Arg
NM_017864.3:c.499G>A	NP_060334.2:p.Gly167Arg
NR_073444.1:n.641G>A
NR_073445.1:n.641G>A
XM_006716602.2:c.499G>A	XP_006716665.1:p.Gly167Arg
XM_006716603.2:c.172G>A	XP_006716666.1:p.Gly58Arg
XM_011517155.1:c.376G>A	XP_011515457.1:p.Gly126Arg
XM_011517156.1:c.499G>A	XP_011515458.1:p.Gly167Arg
XM_011517157.1:c.172G>A	XP_011515459.1:p.Gly58Arg
XM_017013616.1:c.499G>A	XP_016869105.1:p.Gly167Arg
XM_017013617.1:c.499G>A	XP_016869106.1:p.Gly167Arg
XM_017013618.1:c.172G>A	XP_016869107.1:p.Gly58Arg
XM_017013619.1:c.-785G>A	XP_016869108.1:n.-785G>A
NM_017864.4:c.499G>A MANE Select	NP_060334.2:p.Gly167Arg
NR_073444.2:n.644G>A
NR_073445.2:n.644G>A