Canonical Allele Identifier: CA375633762

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842956007
• MyVariant Identifiers: chr9:g.139393368C>T (hg19) ; chr9:g.136498916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498916C>T , CM000671.2:g.136498916C>T	GRCh38
NC_000009.11:g.139393368C>T , CM000671.1:g.139393368C>T	GRCh37
NC_000009.10:g.138513189C>T	NCBI36
NG_007458.1:g.51871G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6163G>A MANE Select	ENSP00000498587.1:p.Asp2055Asn
ENST00000679595.1:c.*1203G>A	ENSP00000506241.1:n.*1203G>A
ENST00000679969.1:n.2759G>A
ENST00000680003.1:n.2495G>A
ENST00000680133.1:c.6049G>A	ENSP00000505319.1:p.Asp2017Asn
ENST00000680218.1:c.6043G>A	ENSP00000505339.1:p.Asp2015Asn
ENST00000680668.1:c.6049G>A	ENSP00000506336.1:p.Asp2017Asn
ENST00000680778.1:c.3760G>A	ENSP00000506033.1:p.Asp1254Asn
ENST00000680924.1:c.*3563G>A	ENSP00000506031.1:n.*3563G>A
ENST00000681135.1:c.*3772G>A	ENSP00000506636.1:n.*3772G>A
ENST00000681298.1:n.4268G>A
ENST00000681454.1:c.*5399G>A	ENSP00000505763.1:n.*5399G>A
ENST00000277541.6:c.6163G>A	ENSP00000277541.6:p.Asp2055Asn
NM_017617.3:c.6163G>A	NP_060087.3:p.Asp2055Asn
XM_011518717.1:c.5464G>A	XP_011517019.1:p.Asp1822Asn
NM_017617.5:c.6163G>A MANE Select	NP_060087.3:p.Asp2055Asn
XM_011518717.2:c.5440G>A	XP_011517019.2:p.Asp1814Asn