Canonical Allele Identifier: CA8418220
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1514382
ClinVar RCV Id: RCV002018630
dbSNP Id: rs770576612
ExAC: 17:17697120 G / T
gnomAD v2: 17-17697120-G-T
gnomAD v4: 17-17793806-G-T
MyVariant Identifiers: chr17:g.17697120G>T (hg19) chr17:g.17793806G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793806G>T , CM000679.2:g.17793806G>T GRCh38
NC_000017.10:g.17697120G>T , CM000679.1:g.17697120G>T GRCh37
NC_000017.9:g.17637845G>T NCBI36
NG_007101.2:g.117334G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.858G>T MANE Select ENSP00000323074.4:p.Gln286His
ENST00000640861.1:c.792G>T ENSP00000491773.1:p.Gln264His
ENST00000353383.5:c.858G>T ENSP00000323074.4:p.Gln286His
ENST00000395774.1:c.858G>T ENSP00000379120.1:p.Gln286His
NM_030665.3:c.858G>T NP_109590.3:p.Gln286His
XM_017024025.1:c.858G>T XP_016879514.1:p.Gln286His
XM_017024026.1:c.858G>T XP_016879515.1:p.Gln286His
XM_017024027.1:c.858G>T XP_016879516.1:p.Gln286His
XM_017024028.2:c.858G>T XP_016879517.1:p.Gln286His
NM_030665.4:c.858G>T MANE Select NP_109590.3:p.Gln286His
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