Canonical Allele Identifier: CA9263882

Gene: NOTCH3

Linked Data

• dbSNP Id: rs779932875
• ExAC: 19:15302995 C / T
• gnomAD v2: 19-15302995-C-T
• gnomAD v3: 19-15192184-C-T
• gnomAD v4: 19-15192184-C-T
• COSMIC: COSM5972748 ; COSM5972749
• MyVariant Identifiers: chr19:g.15302995C>T (hg19) ; chr19:g.15192184C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192184C>T , CM000681.2:g.15192184C>T	GRCh38
NC_000019.9:g.15302995C>T , CM000681.1:g.15302995C>T	GRCh37
NC_000019.8:g.15163995C>T	NCBI36
NG_009819.1:g.13798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.455G>A MANE Select	ENSP00000263388.1:p.Gly152Asp
ENST00000263388.6:c.455G>A	ENSP00000263388.1:p.Gly152Asp
ENST00000601011.1:c.452G>A	ENSP00000473138.1:p.Gly151Asp
NM_000435.2:c.455G>A	NP_000426.2:p.Gly152Asp
XM_005259924.3:c.455G>A	XP_005259981.1:p.Gly152Asp
XM_005259924.4:c.455G>A	XP_005259981.1:p.Gly152Asp
NM_000435.3:c.455G>A MANE Select	NP_000426.2:p.Gly152Asp