Canonical Allele Identifier: CA345868

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 155828
• ClinVar RCV Id: RCV000143940 ; RCV000143941 ; RCV000660160 ; RCV000864876 ; RCV001719910 ; RCV002269926
• dbSNP Id: rs373113999
• ExAC: 9:139401165 C / T
• gnomAD v2: 9-139401165-C-T
• gnomAD v3: 9-136506713-C-T
• gnomAD v4: 9-136506713-C-T
• COSMIC: COSM5881415
• MyVariant Identifiers: chr9:g.139401165C>T (hg19) ; chr9:g.136506713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136506713C>T , CM000671.2:g.136506713C>T	GRCh38
NC_000009.11:g.139401165C>T , CM000671.1:g.139401165C>T	GRCh37
NC_000009.10:g.138520986C>T	NCBI36
NG_007458.1:g.44074G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.1708+3G>A
ENST00000651671.1:c.3901+3G>A MANE Select	ENSP00000498587.1:n.3901+3G>A
ENST00000679595.1:c.3901+3G>A	ENSP00000506241.1:n.3901+3G>A
ENST00000680133.1:c.3787+3G>A	ENSP00000505319.1:n.3787+3G>A
ENST00000680218.1:c.3782-74G>A	ENSP00000505339.1:n.3782-74G>A
ENST00000680668.1:c.3787+3G>A	ENSP00000506336.1:n.3787+3G>A
ENST00000680778.1:c.1498+3G>A	ENSP00000506033.1:n.1498+3G>A
ENST00000680924.1:c.*1301+3G>A	ENSP00000506031.1:n.*1301+3G>A
ENST00000681135.1:c.*1510+3G>A	ENSP00000506636.1:n.*1510+3G>A
ENST00000681298.1:n.714+3G>A
ENST00000681454.1:c.*3137+3G>A	ENSP00000505763.1:n.*3137+3G>A
ENST00000277541.6:c.3901+3G>A	ENSP00000277541.6:n.3901+3G>A
NM_017617.3:c.3901+3G>A	NP_060087.3:n.3901+3G>A
XM_011518717.1:c.3202+3G>A	XP_011517019.1:n.3202+3G>A
NM_017617.5:c.3901+3G>A MANE Select	NP_060087.3:n.3901+3G>A
XM_011518717.2:c.3178+3G>A	XP_011517019.2:n.3178+3G>A