Canonical Allele Identifier: CA375645771

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337588
• MyVariant Identifiers: chr9:g.139399495T>A (hg19) ; chr9:g.136505043T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505043T>A , CM000671.2:g.136505043T>A	GRCh38
NC_000009.11:g.139399495T>A , CM000671.1:g.139399495T>A	GRCh37
NC_000009.10:g.138519316T>A	NCBI36
NG_007458.1:g.45744A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2455A>T
ENST00000651671.1:c.4648A>T MANE Select	ENSP00000498587.1:p.Asn1550Tyr
ENST00000679595.1:c.4648A>T	ENSP00000506241.1:p.Asn1550Tyr
ENST00000680133.1:c.4534A>T	ENSP00000505319.1:p.Asn1512Tyr
ENST00000680218.1:c.4528A>T	ENSP00000505339.1:p.Asn1510Tyr
ENST00000680668.1:c.4534A>T	ENSP00000506336.1:p.Asn1512Tyr
ENST00000680778.1:c.2245A>T	ENSP00000506033.1:p.Asn749Tyr
ENST00000680924.1:c.*2048A>T	ENSP00000506031.1:n.*2048A>T
ENST00000681135.1:c.*2257A>T	ENSP00000506636.1:n.*2257A>T
ENST00000681298.1:n.1461A>T
ENST00000681454.1:c.*3884A>T	ENSP00000505763.1:n.*3884A>T
ENST00000277541.6:c.4648A>T	ENSP00000277541.6:p.Asn1550Tyr
NM_017617.3:c.4648A>T	NP_060087.3:p.Asn1550Tyr
XM_011518717.1:c.3949A>T	XP_011517019.1:p.Asn1317Tyr
NM_017617.5:c.4648A>T MANE Select	NP_060087.3:p.Asn1550Tyr
XM_011518717.2:c.3925A>T	XP_011517019.2:p.Asn1309Tyr