Canonical Allele Identifier: CA10605754

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 287393
• ClinVar RCV Id: RCV000327683 ; RCV002059219 ; RCV002379140
• dbSNP Id: rs368963607
• gnomAD v2: 9-139412265-C-T
• gnomAD v3: 9-136517813-C-T
• gnomAD v4: 9-136517813-C-T
• COSMIC: COSM3942949 ; COSM3942950
• MyVariant Identifiers: chr9:g.139412265C>T (hg19) ; chr9:g.136517813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517813C>T , CM000671.2:g.136517813C>T	GRCh38
NC_000009.11:g.139412265C>T , CM000671.1:g.139412265C>T	GRCh37
NC_000009.10:g.138532086C>T	NCBI36
NG_007458.1:g.32974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1380G>A MANE Select	ENSP00000498587.1:p.Pro460=
ENST00000679595.1:c.1380G>A	ENSP00000506241.1:p.Pro460=
ENST00000680133.1:c.1380G>A	ENSP00000505319.1:p.Pro460=
ENST00000680218.1:c.1380G>A	ENSP00000505339.1:p.Pro460=
ENST00000680668.1:c.1380G>A	ENSP00000506336.1:p.Pro460=
ENST00000680924.1:c.1380G>A	ENSP00000506031.1:p.Pro460=
ENST00000681135.1:c.1380G>A	ENSP00000506636.1:p.Pro460=
ENST00000681454.1:c.*616G>A	ENSP00000505763.1:n.*616G>A
ENST00000277541.6:c.1380G>A	ENSP00000277541.6:p.Pro460=
NM_017617.3:c.1380G>A	NP_060087.3:p.Pro460=
XM_011518717.1:c.681G>A	XP_011517019.1:p.Pro227=
NM_017617.5:c.1380G>A MANE Select	NP_060087.3:p.Pro460=
XM_011518717.2:c.657G>A	XP_011517019.2:p.Pro219=