Canonical Allele Identifier: CA8418223

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1184965
• ClinVar RCV Id: RCV002464467
• dbSNP Id: rs771803841
• ExAC: 17:17697130 C / T
• MyVariant Identifiers: chr17:g.17697130C>T (hg19) ; chr17:g.17793816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793816C>T , CM000679.2:g.17793816C>T	GRCh38
NC_000017.10:g.17697130C>T , CM000679.1:g.17697130C>T	GRCh37
NC_000017.9:g.17637855C>T	NCBI36
NG_007101.2:g.117344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.868C>T MANE Select	ENSP00000323074.4:p.Gln290Ter
ENST00000640861.1:c.802C>T	ENSP00000491773.1:p.Gln268Ter
ENST00000353383.5:c.868C>T	ENSP00000323074.4:p.Gln290Ter
ENST00000395774.1:c.868C>T	ENSP00000379120.1:p.Gln290Ter
NM_030665.3:c.868C>T	NP_109590.3:p.Gln290Ter
XM_017024025.1:c.868C>T	XP_016879514.1:p.Gln290Ter
XM_017024026.1:c.868C>T	XP_016879515.1:p.Gln290Ter
XM_017024027.1:c.868C>T	XP_016879516.1:p.Gln290Ter
XM_017024028.2:c.868C>T	XP_016879517.1:p.Gln290Ter
NM_030665.4:c.868C>T MANE Select	NP_109590.3:p.Gln290Ter