Canonical Allele Identifier: CA5341817

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 721455
• ClinVar RCV Id: RCV000894966
• dbSNP Id: rs748499336
• ExAC: 9:139412253 G / A
• gnomAD v2: 9-139412253-G-A
• gnomAD v3: 9-136517801-G-A
• gnomAD v4: 9-136517801-G-A
• COSMIC: COSM1461197 ; COSM1461198
• MyVariant Identifiers: chr9:g.139412253G>A (hg19) ; chr9:g.136517801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517801G>A , CM000671.2:g.136517801G>A	GRCh38
NC_000009.11:g.139412253G>A , CM000671.1:g.139412253G>A	GRCh37
NC_000009.10:g.138532074G>A	NCBI36
NG_007458.1:g.32986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1392C>T MANE Select	ENSP00000498587.1:p.Asp464=
ENST00000679595.1:c.1392C>T	ENSP00000506241.1:p.Asp464=
ENST00000680133.1:c.1392C>T	ENSP00000505319.1:p.Asp464=
ENST00000680218.1:c.1392C>T	ENSP00000505339.1:p.Asp464=
ENST00000680668.1:c.1392C>T	ENSP00000506336.1:p.Asp464=
ENST00000680924.1:c.1392C>T	ENSP00000506031.1:p.Asp464=
ENST00000681135.1:c.1392C>T	ENSP00000506636.1:p.Asp464=
ENST00000681454.1:c.*628C>T	ENSP00000505763.1:n.*628C>T
ENST00000277541.6:c.1392C>T	ENSP00000277541.6:p.Asp464=
NM_017617.3:c.1392C>T	NP_060087.3:p.Asp464=
XM_011518717.1:c.693C>T	XP_011517019.1:p.Asp231=
NM_017617.5:c.1392C>T MANE Select	NP_060087.3:p.Asp464=
XM_011518717.2:c.669C>T	XP_011517019.2:p.Asp223=