Canonical Allele Identifier: CA632128097

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1412990396
• gnomAD v2: 19-15302610-T-TC
• gnomAD v4: 19-15191799-T-TC
• MyVariant Identifiers: chr19:g.15302610_15302611insC (hg19) ; chr19:g.15191799_15191800insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191805dup , CM000681.2:g.15191805dup	GRCh38
NC_000019.9:g.15302616dup , CM000681.1:g.15302616dup	GRCh37
NC_000019.8:g.15163616dup	NCBI36
NG_009819.1:g.14182dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.747dup MANE Select	ENSP00000263388.1:p.Thr250AspfsTer10
ENST00000263388.6:c.747dup	ENSP00000263388.1:p.Thr250AspfsTer10
ENST00000601011.1:c.744dup	ENSP00000473138.1:p.Thr249AspfsTer10
NM_000435.2:c.747dup	NP_000426.2:p.Thr250AspfsTer10
XM_005259924.3:c.747dup	XP_005259981.1:p.Thr250AspfsTer10
XM_005259924.4:c.747dup	XP_005259981.1:p.Thr250AspfsTer10
NM_000435.3:c.747dup MANE Select	NP_000426.2:p.Thr250AspfsTer10