Canonical Allele Identifier: CA204096

Gene: INTS8

Linked Data

• ClinVar Variation Id: 207857
• ClinVar RCV Id: RCV000190147
• dbSNP Id: rs796052157
• MyVariant Identifiers: chr8:g.95839987A>C (hg19) ; chr8:g.94827759A>C (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827759A>C , CM000670.2:g.94827759A>C	GRCh38
NC_000008.10:g.95839987A>C , CM000670.1:g.95839987A>C	GRCh37
NC_000008.9:g.95909163A>C	NCBI36
NG_047163.1:g.19449A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000523731.6:c.484A>C MANE Select	ENSP00000430338.1:p.Lys162Gln
ENST00000343161.8:c.484A>C	ENSP00000343274.4:p.Lys162Gln
ENST00000519053.5:c.157A>C	ENSP00000429056.1:p.Lys53Gln
ENST00000519457.5:c.343A>C	ENSP00000428260.1:p.Lys115Gln
ENST00000521860.5:c.446A>C
ENST00000522171.5:c.361A>C	ENSP00000429340.1:p.Lys121Gln
ENST00000523206.5:c.484A>C	ENSP00000429452.1:p.Lys162Gln
ENST00000523321.5:n.609A>C
ENST00000523731.5:c.484A>C	ENSP00000430338.1:p.Lys162Gln
ENST00000524333.5:c.484A>C	ENSP00000427840.1:p.Lys162Gln
NM_017864.3:c.484A>C	NP_060334.2:p.Lys162Gln
NR_073444.1:n.626A>C
NR_073445.1:n.626A>C
XM_006716602.2:c.484A>C	XP_006716665.1:p.Lys162Gln
XM_006716603.2:c.157A>C	XP_006716666.1:p.Lys53Gln
XM_011517155.1:c.361A>C	XP_011515457.1:p.Lys121Gln
XM_011517156.1:c.484A>C	XP_011515458.1:p.Lys162Gln
XM_011517157.1:c.157A>C	XP_011515459.1:p.Lys53Gln
XM_017013616.1:c.484A>C	XP_016869105.1:p.Lys162Gln
XM_017013617.1:c.484A>C	XP_016869106.1:p.Lys162Gln
XM_017013618.1:c.157A>C	XP_016869107.1:p.Lys53Gln
XM_017013619.1:c.-800A>C	XP_016869108.1:n.-800A>C
NM_017864.4:c.484A>C MANE Select	NP_060334.2:p.Lys162Gln
NR_073444.2:n.629A>C
NR_073445.2:n.629A>C