Canonical Allele Identifier: CA181440831

Gene: INTS8

Linked Data

• dbSNP Id: rs531574416
• gnomAD v3: 8-94827864-A-G
• gnomAD v4: 8-94827864-A-G
• MyVariant Identifiers: chr8:g.95840092A>G (hg19) ; chr8:g.94827864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827864A>G , CM000670.2:g.94827864A>G	GRCh38
NC_000008.10:g.95840092A>G , CM000670.1:g.95840092A>G	GRCh37
NC_000008.9:g.95909268A>G	NCBI36
NG_047163.1:g.19554A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.518+71A>G MANE Select	ENSP00000430338.1:n.518+71A>G
ENST00000343161.8:c.518+71A>G	ENSP00000343274.4:n.518+71A>G
ENST00000519053.5:c.191+71A>G	ENSP00000429056.1:n.191+71A>G
ENST00000519457.5:c.377+71A>G	ENSP00000428260.1:n.377+71A>G
ENST00000521860.5:c.480+71A>G
ENST00000522171.5:c.395+71A>G	ENSP00000429340.1:n.395+71A>G
ENST00000523206.5:c.518+71A>G	ENSP00000429452.1:n.518+71A>G
ENST00000523321.5:n.643+71A>G
ENST00000523731.5:c.518+71A>G	ENSP00000430338.1:n.518+71A>G
ENST00000524333.5:c.518+71A>G	ENSP00000427840.1:n.518+71A>G
NM_017864.3:c.518+71A>G	NP_060334.2:n.518+71A>G
NR_073444.1:n.660+71A>G
NR_073445.1:n.660+71A>G
XM_006716602.2:c.518+71A>G	XP_006716665.1:n.518+71A>G
XM_006716603.2:c.191+71A>G	XP_006716666.1:n.191+71A>G
XM_011517155.1:c.395+71A>G	XP_011515457.1:n.395+71A>G
XM_011517156.1:c.518+71A>G	XP_011515458.1:n.518+71A>G
XM_011517157.1:c.191+71A>G	XP_011515459.1:n.191+71A>G
XM_017013616.1:c.518+71A>G	XP_016869105.1:n.518+71A>G
XM_017013617.1:c.518+71A>G	XP_016869106.1:n.518+71A>G
XM_017013618.1:c.191+71A>G	XP_016869107.1:n.191+71A>G
XM_017013619.1:c.-766+71A>G	XP_016869108.1:n.-766+71A>G
NM_017864.4:c.518+71A>G MANE Select	NP_060334.2:n.518+71A>G
NR_073444.2:n.663+71A>G
NR_073445.2:n.663+71A>G