Canonical Allele Identifier: CA371731974

Gene: INTS8

Linked Data

• gnomAD v4: 8-94827772-C-T
• COSMIC: COSM5875146
• MyVariant Identifiers: chr8:g.95840000C>T (hg19) ; chr8:g.94827772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827772C>T , CM000670.2:g.94827772C>T	GRCh38
NC_000008.10:g.95840000C>T , CM000670.1:g.95840000C>T	GRCh37
NC_000008.9:g.95909176C>T	NCBI36
NG_047163.1:g.19462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.497C>T MANE Select	ENSP00000430338.1:p.Pro166Leu
ENST00000343161.8:c.497C>T	ENSP00000343274.4:p.Pro166Leu
ENST00000519053.5:c.170C>T	ENSP00000429056.1:p.Pro57Leu
ENST00000519457.5:c.356C>T	ENSP00000428260.1:p.Pro119Leu
ENST00000521860.5:c.459C>T
ENST00000522171.5:c.374C>T	ENSP00000429340.1:p.Pro125Leu
ENST00000523206.5:c.497C>T	ENSP00000429452.1:p.Pro166Leu
ENST00000523321.5:n.622C>T
ENST00000523731.5:c.497C>T	ENSP00000430338.1:p.Pro166Leu
ENST00000524333.5:c.497C>T	ENSP00000427840.1:p.Pro166Leu
NM_017864.3:c.497C>T	NP_060334.2:p.Pro166Leu
NR_073444.1:n.639C>T
NR_073445.1:n.639C>T
XM_006716602.2:c.497C>T	XP_006716665.1:p.Pro166Leu
XM_006716603.2:c.170C>T	XP_006716666.1:p.Pro57Leu
XM_011517155.1:c.374C>T	XP_011515457.1:p.Pro125Leu
XM_011517156.1:c.497C>T	XP_011515458.1:p.Pro166Leu
XM_011517157.1:c.170C>T	XP_011515459.1:p.Pro57Leu
XM_017013616.1:c.497C>T	XP_016869105.1:p.Pro166Leu
XM_017013617.1:c.497C>T	XP_016869106.1:p.Pro166Leu
XM_017013618.1:c.170C>T	XP_016869107.1:p.Pro57Leu
XM_017013619.1:c.-787C>T	XP_016869108.1:n.-787C>T
NM_017864.4:c.497C>T MANE Select	NP_060334.2:p.Pro166Leu
NR_073444.2:n.642C>T
NR_073445.2:n.642C>T