Canonical Allele Identifier: CA404524248

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 2766559
• ClinVar RCV Id: RCV003580337
• MyVariant Identifiers: chr19:g.15297757G>T (hg19) ; chr19:g.15186946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15186946G>T , CM000681.2:g.15186946G>T	GRCh38
NC_000019.9:g.15297757G>T , CM000681.1:g.15297757G>T	GRCh37
NC_000019.8:g.15158757G>T	NCBI36
NG_009819.1:g.19036C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1883C>A MANE Select	ENSP00000263388.1:p.Pro628His
ENST00000263388.6:c.1883C>A	ENSP00000263388.1:p.Pro628His
ENST00000601011.1:c.1880C>A	ENSP00000473138.1:p.Pro627His
NM_000435.2:c.1883C>A	NP_000426.2:p.Pro628His
XM_005259924.3:c.1883C>A	XP_005259981.1:p.Pro628His
XM_005259924.4:c.1883C>A	XP_005259981.1:p.Pro628His
NM_000435.3:c.1883C>A MANE Select	NP_000426.2:p.Pro628His