Canonical Allele Identifier: CA2580096672

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 2033522
• ClinVar RCV Id: RCV002885221

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191799dup , CM000681.2:g.15191799dup	GRCh38
NC_000019.9:g.15302610dup , CM000681.1:g.15302610dup	GRCh37
NC_000019.8:g.15163610dup	NCBI36
NG_009819.1:g.14183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.748dup MANE Select	ENSP00000263388.1:p.Thr250AsnfsTer10
ENST00000263388.6:c.748dup	ENSP00000263388.1:p.Thr250AsnfsTer10
ENST00000601011.1:c.745dup	ENSP00000473138.1:p.Thr249AsnfsTer10
NM_000435.2:c.748dup	NP_000426.2:p.Thr250AsnfsTer10
XM_005259924.3:c.748dup	XP_005259981.1:p.Thr250AsnfsTer10
XM_005259924.4:c.748dup	XP_005259981.1:p.Thr250AsnfsTer10
NM_000435.3:c.748dup MANE Select	NP_000426.2:p.Thr250AsnfsTer10