Canonical Allele Identifier: CA375631211

Gene: NOTCH1

Linked Data

• dbSNP Id: rs775585772
• MyVariant Identifiers: chr9:g.139391619A>T (hg19) ; chr9:g.136497167A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497167A>T , CM000671.2:g.136497167A>T	GRCh38
NC_000009.11:g.139391619A>T , CM000671.1:g.139391619A>T	GRCh37
NC_000009.10:g.138511440A>T	NCBI36
NG_007458.1:g.53620T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6572T>A MANE Select	ENSP00000498587.1:p.Leu2191Gln
ENST00000679595.1:c.*1612T>A	ENSP00000506241.1:n.*1612T>A
ENST00000679969.1:n.3168T>A
ENST00000680003.1:n.2904T>A
ENST00000680133.1:c.6458T>A	ENSP00000505319.1:p.Leu2153Gln
ENST00000680218.1:c.6452T>A	ENSP00000505339.1:p.Leu2151Gln
ENST00000680668.1:c.6458T>A	ENSP00000506336.1:p.Leu2153Gln
ENST00000680778.1:c.4169T>A	ENSP00000506033.1:p.Leu1390Gln
ENST00000680924.1:c.*3972T>A	ENSP00000506031.1:n.*3972T>A
ENST00000681135.1:c.*4181T>A	ENSP00000506636.1:n.*4181T>A
ENST00000681298.1:n.4677T>A
ENST00000681454.1:c.*5808T>A	ENSP00000505763.1:n.*5808T>A
ENST00000277541.6:c.6572T>A	ENSP00000277541.6:p.Leu2191Gln
NM_017617.3:c.6572T>A	NP_060087.3:p.Leu2191Gln
XM_011518717.1:c.5873T>A	XP_011517019.1:p.Leu1958Gln
NM_017617.5:c.6572T>A MANE Select	NP_060087.3:p.Leu2191Gln
XM_011518717.2:c.5849T>A	XP_011517019.2:p.Leu1950Gln