Canonical Allele Identifier: CA2580897982

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136494732A>T , CM000671.2:g.136494732A>T	GRCh38
NC_000009.11:g.139389184A>T , CM000671.1:g.139389184A>T	GRCh37
NC_000009.10:g.138509005A>T	NCBI36
NG_007458.1:g.56055T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.*1339T>A MANE Select	NP_060087.3:n.*1339T>A
ENST00000651671.1:c.*1339T>A MANE Select	ENSP00000498587.1:n.*1339T>A
NM_017617.3:c.9007T>A	NP_060087.3:n.9007T>A
ENST00000277541.6:c.*1339T>A	ENSP00000277541.6:n.*1339T>A
ENST00000679595.1:c.*4047T>A	ENSP00000506241.1:n.*4047T>A
ENST00000679969.1:n.5603T>A
ENST00000680003.1:n.5339T>A
ENST00000680133.1:c.*1339T>A	ENSP00000505319.1:n.*1339T>A
ENST00000680218.1:c.*1339T>A	ENSP00000505339.1:n.*1339T>A
ENST00000680668.1:c.*1339T>A	ENSP00000506336.1:n.*1339T>A
ENST00000680778.1:c.*1339T>A	ENSP00000506033.1:n.*1339T>A
ENST00000680924.1:c.*6407T>A	ENSP00000506031.1:n.*6407T>A
ENST00000681135.1:c.*6616T>A	ENSP00000506636.1:n.*6616T>A
ENST00000681454.1:c.*8243T>A	ENSP00000505763.1:n.*8243T>A
XM_011518717.1:c.*1339T>A	XP_011517019.1:n.*1339T>A