Canonical Allele Identifier: CA506078399

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2046886610
• gnomAD v3: 19-15186954-G-T
• gnomAD v4: 19-15186954-G-T
• MyVariant Identifiers: chr19:g.15297765G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15186954G>T , CM000681.2:g.15186954G>T	GRCh38
NC_000019.9:g.15297765G>T , CM000681.1:g.15297765G>T	GRCh37
NC_000019.8:g.15158765G>T	NCBI36
NG_009819.1:g.19028C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1875C>A MANE Select	ENSP00000263388.1:p.Ala625=
ENST00000263388.6:c.1875C>A	ENSP00000263388.1:p.Ala625=
ENST00000601011.1:c.1872C>A	ENSP00000473138.1:p.Ala624=
NM_000435.2:c.1875C>A	NP_000426.2:p.Ala625=
XM_005259924.3:c.1875C>A	XP_005259981.1:p.Ala625=
XM_005259924.4:c.1875C>A	XP_005259981.1:p.Ala625=
NM_000435.3:c.1875C>A MANE Select	NP_000426.2:p.Ala625=