Canonical Allele Identifier: CA375634366

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322692
• MyVariant Identifiers: chr9:g.139393600T>A (hg19) ; chr9:g.136499148T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499148T>A , CM000671.2:g.136499148T>A	GRCh38
NC_000009.11:g.139393600T>A , CM000671.1:g.139393600T>A	GRCh37
NC_000009.10:g.138513421T>A	NCBI36
NG_007458.1:g.51639A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6046A>T MANE Select	ENSP00000498587.1:p.Asn2016Tyr
ENST00000679595.1:c.*1086A>T	ENSP00000506241.1:n.*1086A>T
ENST00000679969.1:n.2527A>T
ENST00000680003.1:n.2378A>T
ENST00000680133.1:c.5932A>T	ENSP00000505319.1:p.Asn1978Tyr
ENST00000680218.1:c.5926A>T	ENSP00000505339.1:p.Asn1976Tyr
ENST00000680668.1:c.5932A>T	ENSP00000506336.1:p.Asn1978Tyr
ENST00000680778.1:c.3643A>T	ENSP00000506033.1:p.Asn1215Tyr
ENST00000680924.1:c.*3446A>T	ENSP00000506031.1:n.*3446A>T
ENST00000681135.1:c.*3655A>T	ENSP00000506636.1:n.*3655A>T
ENST00000681298.1:n.4151A>T
ENST00000681454.1:c.*5282A>T	ENSP00000505763.1:n.*5282A>T
ENST00000277541.6:c.6046A>T	ENSP00000277541.6:p.Asn2016Tyr
NM_017617.3:c.6046A>T	NP_060087.3:p.Asn2016Tyr
XM_011518717.1:c.5347A>T	XP_011517019.1:p.Asn1783Tyr
NM_017617.5:c.6046A>T MANE Select	NP_060087.3:p.Asn2016Tyr
XM_011518717.2:c.5323A>T	XP_011517019.2:p.Asn1775Tyr