Canonical Allele Identifier: CA9262742

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 447853
• ClinVar RCV Id: RCV000518588 ; RCV000865419 ; RCV003942694
• dbSNP Id: rs369547319
• ExAC: 19:15281132 G / C
• gnomAD v2: 19-15281132-G-C
• gnomAD v3: 19-15170321-G-C
• gnomAD v4: 19-15170321-G-C
• MyVariant Identifiers: chr19:g.15281132G>C (hg19) ; chr19:g.15170321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15170321G>C , CM000681.2:g.15170321G>C	GRCh38
NC_000019.9:g.15281132G>C , CM000681.1:g.15281132G>C	GRCh37
NC_000019.8:g.15142132G>C	NCBI36
NG_009819.1:g.35661C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263388.7:c.5114+10C>G MANE Select	ENSP00000263388.1:n.5114+10C>G
ENST00000263388.6:c.5114+10C>G	ENSP00000263388.1:n.5114+10C>G
NM_000435.2:c.5114+10C>G	NP_000426.2:n.5114+10C>G
XM_005259924.3:c.4958+10C>G	XP_005259981.1:n.4958+10C>G
XM_005259924.4:c.4958+10C>G	XP_005259981.1:n.4958+10C>G
NM_000435.3:c.5114+10C>G MANE Select	NP_000426.2:n.5114+10C>G