Canonical Allele Identifier: CA9263774
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 995058
ClinVar RCV Id: RCV001288900 RCV002069556 RCV004035564
dbSNP Id: rs749561286
ExAC: 19:15302456 G / A
gnomAD v2: 19-15302456-G-A
gnomAD v3: 19-15191645-G-A
gnomAD v4: 19-15191645-G-A
COSMIC: COSM3283145 COSM3283146
MyVariant Identifiers: chr19:g.15302456G>A (hg19) chr19:g.15191645G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191645G>A , CM000681.2:g.15191645G>A GRCh38
NC_000019.9:g.15302456G>A , CM000681.1:g.15302456G>A GRCh37
NC_000019.8:g.15163456G>A NCBI36
NG_009819.1:g.14337C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.815C>T MANE Select ENSP00000263388.1:p.Thr272Met
ENST00000263388.6:c.815C>T ENSP00000263388.1:p.Thr272Met
ENST00000601011.1:c.812C>T ENSP00000473138.1:p.Thr271Met
NM_000435.2:c.815C>T NP_000426.2:p.Thr272Met
XM_005259924.3:c.815C>T XP_005259981.1:p.Thr272Met
XM_005259924.4:c.815C>T XP_005259981.1:p.Thr272Met
NM_000435.3:c.815C>T MANE Select NP_000426.2:p.Thr272Met
Search 100 bp 5'
Search 100 bp 3'