Canonical Allele Identifier: CA9263128

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 890830
• ClinVar RCV Id: RCV001125713 ; RCV002070049
• dbSNP Id: rs777978969
• ExAC: 19:15290872 C / T
• gnomAD v2: 19-15290872-C-T
• gnomAD v3: 19-15180061-C-T
• gnomAD v4: 19-15180061-C-T
• MyVariant Identifiers: chr19:g.15290872C>T (hg19) ; chr19:g.15180061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180061C>T , CM000681.2:g.15180061C>T	GRCh38
NC_000019.9:g.15290872C>T , CM000681.1:g.15290872C>T	GRCh37
NC_000019.8:g.15151872C>T	NCBI36
NG_009819.1:g.25921G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3327+11G>A MANE Select	ENSP00000263388.1:n.3327+11G>A
ENST00000263388.6:c.3327+11G>A	ENSP00000263388.1:n.3327+11G>A
ENST00000601011.1:c.3168+11G>A	ENSP00000473138.1:n.3168+11G>A
NM_000435.2:c.3327+11G>A	NP_000426.2:n.3327+11G>A
XM_005259924.3:c.3171+11G>A	XP_005259981.1:n.3171+11G>A
XM_005259924.4:c.3171+11G>A	XP_005259981.1:n.3171+11G>A
NM_000435.3:c.3327+11G>A MANE Select	NP_000426.2:n.3327+11G>A