Canonical Allele Identifier: CA404524558

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187113-C-T
• COSMIC: COSM4531869 ; COSM4531870
• MyVariant Identifiers: chr19:g.15297924C>T (hg19) ; chr19:g.15187113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187113C>T , CM000681.2:g.15187113C>T	GRCh38
NC_000019.9:g.15297924C>T , CM000681.1:g.15297924C>T	GRCh37
NC_000019.8:g.15158924C>T	NCBI36
NG_009819.1:g.18869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1832G>A MANE Select	ENSP00000263388.1:p.Gly611Glu
ENST00000263388.6:c.1832G>A	ENSP00000263388.1:p.Gly611Glu
ENST00000601011.1:c.1829G>A	ENSP00000473138.1:p.Gly610Glu
NM_000435.2:c.1832G>A	NP_000426.2:p.Gly611Glu
XM_005259924.3:c.1832G>A	XP_005259981.1:p.Gly611Glu
XM_005259924.4:c.1832G>A	XP_005259981.1:p.Gly611Glu
NM_000435.3:c.1832G>A MANE Select	NP_000426.2:p.Gly611Glu