Canonical Allele Identifier: CA404534162

Gene: NOTCH3

Linked Data

• dbSNP Id: rs760836384
• gnomAD v2: 19-15303033-A-T
• MyVariant Identifiers: chr19:g.15303033A>T (hg19) ; chr19:g.15192222A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192222A>T , CM000681.2:g.15192222A>T	GRCh38
NC_000019.9:g.15303033A>T , CM000681.1:g.15303033A>T	GRCh37
NC_000019.8:g.15164033A>T	NCBI36
NG_009819.1:g.13760T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.417T>A MANE Select	ENSP00000263388.1:p.Asp139Glu
ENST00000263388.6:c.417T>A	ENSP00000263388.1:p.Asp139Glu
ENST00000601011.1:c.414T>A	ENSP00000473138.1:p.Asp138Glu
NM_000435.2:c.417T>A	NP_000426.2:p.Asp139Glu
XM_005259924.3:c.417T>A	XP_005259981.1:p.Asp139Glu
XM_005259924.4:c.417T>A	XP_005259981.1:p.Asp139Glu
NM_000435.3:c.417T>A MANE Select	NP_000426.2:p.Asp139Glu