Canonical Allele Identifier: CA375644997

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336806
• COSMIC: COSM24888
• MyVariant Identifiers: chr9:g.139399356A>T (hg19) ; chr9:g.136504904A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504904A>T , CM000671.2:g.136504904A>T	GRCh38
NC_000009.11:g.139399356A>T , CM000671.1:g.139399356A>T	GRCh37
NC_000009.10:g.138519177A>T	NCBI36
NG_007458.1:g.45883T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2594T>A
ENST00000651671.1:c.4787T>A MANE Select	ENSP00000498587.1:p.Leu1596His
ENST00000679595.1:c.4787T>A	ENSP00000506241.1:p.Leu1596His
ENST00000680133.1:c.4673T>A	ENSP00000505319.1:p.Leu1558His
ENST00000680218.1:c.4667T>A	ENSP00000505339.1:p.Leu1556His
ENST00000680668.1:c.4673T>A	ENSP00000506336.1:p.Leu1558His
ENST00000680778.1:c.2384T>A	ENSP00000506033.1:p.Leu795His
ENST00000680924.1:c.*2187T>A	ENSP00000506031.1:n.*2187T>A
ENST00000681135.1:c.*2396T>A	ENSP00000506636.1:n.*2396T>A
ENST00000681298.1:n.1600T>A
ENST00000681454.1:c.*4023T>A	ENSP00000505763.1:n.*4023T>A
ENST00000277541.6:c.4787T>A	ENSP00000277541.6:p.Leu1596His
NM_017617.3:c.4787T>A	NP_060087.3:p.Leu1596His
XM_011518717.1:c.4088T>A	XP_011517019.1:p.Leu1363His
NM_017617.5:c.4787T>A MANE Select	NP_060087.3:p.Leu1596His
XM_011518717.2:c.4064T>A	XP_011517019.2:p.Leu1355His