Canonical Allele Identifier: CA9263774

Gene: NOTCH3

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)

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