Canonical Allele Identifier: CA288367170
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1801989
ClinVar RCV Id: RCV002464808
dbSNP Id: rs144217984
gnomAD v2: 17-17696910-C-G
gnomAD v3: 17-17793596-C-G
gnomAD v4: 17-17793596-C-G
MyVariant Identifiers: chr17:g.17696910C>G (hg19) chr17:g.17793596C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793596C>G , CM000679.2:g.17793596C>G GRCh38
NC_000017.10:g.17696910C>G , CM000679.1:g.17696910C>G GRCh37
NC_000017.9:g.17637635C>G NCBI36
NG_007101.2:g.117124C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.648C>G MANE Select ENSP00000323074.4:p.Phe216Leu
ENST00000640861.1:c.616+32C>G ENSP00000491773.1:n.616+32C>G
ENST00000353383.5:c.648C>G ENSP00000323074.4:p.Phe216Leu
ENST00000395774.1:c.648C>G ENSP00000379120.1:p.Phe216Leu
NM_030665.3:c.648C>G NP_109590.3:p.Phe216Leu
XM_017024025.1:c.648C>G XP_016879514.1:p.Phe216Leu
XM_017024026.1:c.648C>G XP_016879515.1:p.Phe216Leu
XM_017024027.1:c.648C>G XP_016879516.1:p.Phe216Leu
XM_017024028.2:c.648C>G XP_016879517.1:p.Phe216Leu
NM_030665.4:c.648C>G MANE Select NP_109590.3:p.Phe216Leu
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