Canonical Allele Identifier: CA9263505
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2763162
ClinVar RCV Id: RCV003564996
dbSNP Id: rs377689004
ExAC: 19:15297721 C / T
gnomAD v2: 19-15297721-C-T
gnomAD v3: 19-15186910-C-T
gnomAD v4: 19-15186910-C-T
COSMIC: COSM1611712 COSM1611713
MyVariant Identifiers: chr19:g.15297721C>T (hg19) chr19:g.15186910C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186910C>T , CM000681.2:g.15186910C>T GRCh38
NC_000019.9:g.15297721C>T , CM000681.1:g.15297721C>T GRCh37
NC_000019.8:g.15158721C>T NCBI36
NG_009819.1:g.19072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1919G>A MANE Select ENSP00000263388.1:p.Arg640His
ENST00000263388.6:c.1919G>A ENSP00000263388.1:p.Arg640His
ENST00000601011.1:c.1916G>A ENSP00000473138.1:p.Arg639His
NM_000435.2:c.1919G>A NP_000426.2:p.Arg640His
XM_005259924.3:c.1919G>A XP_005259981.1:p.Arg640His
XM_005259924.4:c.1919G>A XP_005259981.1:p.Arg640His
NM_000435.3:c.1919G>A MANE Select NP_000426.2:p.Arg640His
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