Canonical Allele Identifier: CA345931

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 156212
• ClinVar RCV Id: RCV000144233
• dbSNP Id: rs587777734
• MyVariant Identifiers: chr9:g.139393681C>T (hg19) ; chr9:g.136499229C>T (hg38)
• PubMed: PMID:15959515 ; PMID:25132448

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499229C>T , CM000671.2:g.136499229C>T	GRCh38
NC_000009.11:g.139393681C>T , CM000671.1:g.139393681C>T	GRCh37
NC_000009.10:g.138513502C>T	NCBI36
NG_007458.1:g.51558G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651671.1:c.5965G>A MANE Select	ENSP00000498587.1:p.Asp1989Asn
ENST00000679595.1:c.*1005G>A	ENSP00000506241.1:n.*1005G>A
ENST00000679969.1:n.2446G>A
ENST00000680003.1:n.2297G>A
ENST00000680133.1:c.5851G>A	ENSP00000505319.1:p.Asp1951Asn
ENST00000680218.1:c.5845G>A	ENSP00000505339.1:p.Asp1949Asn
ENST00000680668.1:c.5851G>A	ENSP00000506336.1:p.Asp1951Asn
ENST00000680778.1:c.3562G>A	ENSP00000506033.1:p.Asp1188Asn
ENST00000680924.1:c.*3365G>A	ENSP00000506031.1:n.*3365G>A
ENST00000681135.1:c.*3574G>A	ENSP00000506636.1:n.*3574G>A
ENST00000681298.1:n.4070G>A
ENST00000681454.1:c.*5201G>A	ENSP00000505763.1:n.*5201G>A
ENST00000277541.6:c.5965G>A	ENSP00000277541.6:p.Asp1989Asn
NM_017617.3:c.5965G>A	NP_060087.3:p.Asp1989Asn
XM_011518717.1:c.5266G>A	XP_011517019.1:p.Asp1756Asn
NM_017617.5:c.5965G>A MANE Select	NP_060087.3:p.Asp1989Asn
XM_011518717.2:c.5242G>A	XP_011517019.2:p.Asp1748Asn