Canonical Allele Identifier: CA9263134

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 1256511
• ClinVar RCV Id: RCV001663853
• dbSNP Id: rs145524535
• ExAC: 19:15290899 C / T
• gnomAD v2: 19-15290899-C-T
• gnomAD v3: 19-15180088-C-T
• gnomAD v4: 19-15180088-C-T
• MyVariant Identifiers: chr19:g.15290899C>T (hg19) ; chr19:g.15180088C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180088C>T , CM000681.2:g.15180088C>T	GRCh38
NC_000019.9:g.15290899C>T , CM000681.1:g.15290899C>T	GRCh37
NC_000019.8:g.15151899C>T	NCBI36
NG_009819.1:g.25894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3311G>A MANE Select	ENSP00000263388.1:p.Gly1104Glu
ENST00000263388.6:c.3311G>A	ENSP00000263388.1:p.Gly1104Glu
ENST00000601011.1:c.3152G>A	ENSP00000473138.1:p.Gly1051Glu
NM_000435.2:c.3311G>A	NP_000426.2:p.Gly1104Glu
XM_005259924.3:c.3155G>A	XP_005259981.1:p.Gly1052Glu
XM_005259924.4:c.3155G>A	XP_005259981.1:p.Gly1052Glu
NM_000435.3:c.3311G>A MANE Select	NP_000426.2:p.Gly1104Glu