Canonical Allele Identifier: CA9263872
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 804638
ClinVar RCV Id: RCV000991712
dbSNP Id: rs761209241
ExAC: 19:15302962 C / T
gnomAD v2: 19-15302962-C-T
gnomAD v3: 19-15192151-C-T
gnomAD v4: 19-15192151-C-T
COSMIC: COSM4074958 COSM4074959
MyVariant Identifiers: chr19:g.15302962C>T (hg19) chr19:g.15192151C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192151C>T , CM000681.2:g.15192151C>T GRCh38
NC_000019.9:g.15302962C>T , CM000681.1:g.15302962C>T GRCh37
NC_000019.8:g.15163962C>T NCBI36
NG_009819.1:g.13831G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.488G>A MANE Select ENSP00000263388.1:p.Arg163Gln
ENST00000263388.6:c.488G>A ENSP00000263388.1:p.Arg163Gln
ENST00000601011.1:c.485G>A ENSP00000473138.1:p.Arg162Gln
NM_000435.2:c.488G>A NP_000426.2:p.Arg163Gln
XM_005259924.3:c.488G>A XP_005259981.1:p.Arg163Gln
XM_005259924.4:c.488G>A XP_005259981.1:p.Arg163Gln
NM_000435.3:c.488G>A MANE Select NP_000426.2:p.Arg163Gln
Search 100 bp 5'
Search 100 bp 3'