Canonical Allele Identifier: CA375631745

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318625
• MyVariant Identifiers: chr9:g.139391758A>T (hg19) ; chr9:g.136497306A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497306A>T , CM000671.2:g.136497306A>T	GRCh38
NC_000009.11:g.139391758A>T , CM000671.1:g.139391758A>T	GRCh37
NC_000009.10:g.138511579A>T	NCBI36
NG_007458.1:g.53481T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6433T>A MANE Select	ENSP00000498587.1:p.Tyr2145Asn
ENST00000679595.1:c.*1473T>A	ENSP00000506241.1:n.*1473T>A
ENST00000679969.1:n.3029T>A
ENST00000680003.1:n.2765T>A
ENST00000680133.1:c.6319T>A	ENSP00000505319.1:p.Tyr2107Asn
ENST00000680218.1:c.6313T>A	ENSP00000505339.1:p.Tyr2105Asn
ENST00000680668.1:c.6319T>A	ENSP00000506336.1:p.Tyr2107Asn
ENST00000680778.1:c.4030T>A	ENSP00000506033.1:p.Tyr1344Asn
ENST00000680924.1:c.*3833T>A	ENSP00000506031.1:n.*3833T>A
ENST00000681135.1:c.*4042T>A	ENSP00000506636.1:n.*4042T>A
ENST00000681298.1:n.4538T>A
ENST00000681454.1:c.*5669T>A	ENSP00000505763.1:n.*5669T>A
ENST00000277541.6:c.6433T>A	ENSP00000277541.6:p.Tyr2145Asn
NM_017617.3:c.6433T>A	NP_060087.3:p.Tyr2145Asn
XM_011518717.1:c.5734T>A	XP_011517019.1:p.Tyr1912Asn
NM_017617.5:c.6433T>A MANE Select	NP_060087.3:p.Tyr2145Asn
XM_011518717.2:c.5710T>A	XP_011517019.2:p.Tyr1904Asn