Canonical Allele Identifier: CA375645054

Gene: NOTCH1

Linked Data

• dbSNP Id: rs796065341
• MyVariant Identifiers: chr9:g.139399368A>T (hg19) ; chr9:g.136504916A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504916A>T , CM000671.2:g.136504916A>T	GRCh38
NC_000009.11:g.139399368A>T , CM000671.1:g.139399368A>T	GRCh37
NC_000009.10:g.138519189A>T	NCBI36
NG_007458.1:g.45871T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2582T>A
ENST00000651671.1:c.4775T>A MANE Select	ENSP00000498587.1:p.Phe1592Tyr
ENST00000679595.1:c.4775T>A	ENSP00000506241.1:p.Phe1592Tyr
ENST00000680133.1:c.4661T>A	ENSP00000505319.1:p.Phe1554Tyr
ENST00000680218.1:c.4655T>A	ENSP00000505339.1:p.Phe1552Tyr
ENST00000680668.1:c.4661T>A	ENSP00000506336.1:p.Phe1554Tyr
ENST00000680778.1:c.2372T>A	ENSP00000506033.1:p.Phe791Tyr
ENST00000680924.1:c.*2175T>A	ENSP00000506031.1:n.*2175T>A
ENST00000681135.1:c.*2384T>A	ENSP00000506636.1:n.*2384T>A
ENST00000681298.1:n.1588T>A
ENST00000681454.1:c.*4011T>A	ENSP00000505763.1:n.*4011T>A
ENST00000277541.6:c.4775T>A	ENSP00000277541.6:p.Phe1592Tyr
NM_017617.3:c.4775T>A	NP_060087.3:p.Phe1592Tyr
XM_011518717.1:c.4076T>A	XP_011517019.1:p.Phe1359Tyr
NM_017617.5:c.4775T>A MANE Select	NP_060087.3:p.Phe1592Tyr
XM_011518717.2:c.4052T>A	XP_011517019.2:p.Phe1351Tyr