Canonical Allele Identifier: CA161207

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 134940
• ClinVar RCV Id: RCV000121690 ; RCV000769596 ; RCV000233898 ; RCV002269861 ; RCV002492435 ; RCV003430679
• dbSNP Id: rs2229968
• ExAC: 9:139399132 C / T
• gnomAD v2: 9-139399132-C-T
• gnomAD v3: 9-136504680-C-T
• gnomAD v4: 9-136504680-C-T
• COSMIC: COSM33750 ; COSM1461161
• MyVariant Identifiers: chr9:g.139399132C>T (hg19) ; chr9:g.136504680C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504680C>T , CM000671.2:g.136504680C>T	GRCh38
NC_000009.11:g.139399132C>T , CM000671.1:g.139399132C>T	GRCh37
NC_000009.10:g.138518953C>T	NCBI36
NG_007458.1:g.46107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2818G>A
ENST00000651671.1:c.5011G>A MANE Select	ENSP00000498587.1:p.Val1671Ile
ENST00000679595.1:c.5011G>A	ENSP00000506241.1:p.Val1671Ile
ENST00000680133.1:c.4897G>A	ENSP00000505319.1:p.Val1633Ile
ENST00000680218.1:c.4891G>A	ENSP00000505339.1:p.Val1631Ile
ENST00000680668.1:c.4897G>A	ENSP00000506336.1:p.Val1633Ile
ENST00000680778.1:c.2608G>A	ENSP00000506033.1:p.Val870Ile
ENST00000680924.1:c.*2411G>A	ENSP00000506031.1:n.*2411G>A
ENST00000681135.1:c.*2620G>A	ENSP00000506636.1:n.*2620G>A
ENST00000681298.1:n.1824G>A
ENST00000681454.1:c.*4247G>A	ENSP00000505763.1:n.*4247G>A
ENST00000277541.6:c.5011G>A	ENSP00000277541.6:p.Val1671Ile
ENST00000494783.1:n.166G>A
NM_017617.3:c.5011G>A	NP_060087.3:p.Val1671Ile
XM_011518717.1:c.4312G>A	XP_011517019.1:p.Val1438Ile
NM_017617.5:c.5011G>A MANE Select	NP_060087.3:p.Val1671Ile
XM_011518717.2:c.4288G>A	XP_011517019.2:p.Val1430Ile