Canonical Allele Identifier: CA375646085

Gene: NOTCH1

Linked Data

• COSMIC: COSM5881363
• MyVariant Identifiers: chr9:g.139399551A>T (hg19) ; chr9:g.136505099A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505099A>T , CM000671.2:g.136505099A>T	GRCh38
NC_000009.11:g.139399551A>T , CM000671.1:g.139399551A>T	GRCh37
NC_000009.10:g.138519372A>T	NCBI36
NG_007458.1:g.45688T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2399T>A
ENST00000651671.1:c.4592T>A MANE Select	ENSP00000498587.1:p.Leu1531Gln
ENST00000679595.1:c.4592T>A	ENSP00000506241.1:p.Leu1531Gln
ENST00000680133.1:c.4478T>A	ENSP00000505319.1:p.Leu1493Gln
ENST00000680218.1:c.4472T>A	ENSP00000505339.1:p.Leu1491Gln
ENST00000680668.1:c.4478T>A	ENSP00000506336.1:p.Leu1493Gln
ENST00000680778.1:c.2189T>A	ENSP00000506033.1:p.Leu730Gln
ENST00000680924.1:c.*1992T>A	ENSP00000506031.1:n.*1992T>A
ENST00000681135.1:c.*2201T>A	ENSP00000506636.1:n.*2201T>A
ENST00000681298.1:n.1405T>A
ENST00000681454.1:c.*3828T>A	ENSP00000505763.1:n.*3828T>A
ENST00000277541.6:c.4592T>A	ENSP00000277541.6:p.Leu1531Gln
NM_017617.3:c.4592T>A	NP_060087.3:p.Leu1531Gln
XM_011518717.1:c.3893T>A	XP_011517019.1:p.Leu1298Gln
NM_017617.5:c.4592T>A MANE Select	NP_060087.3:p.Leu1531Gln
XM_011518717.2:c.3869T>A	XP_011517019.2:p.Leu1290Gln