Canonical Allele Identifier: CA375555534

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133354945
• gnomAD v4: 9-136511251-G-T
• MyVariant Identifiers: chr9:g.139405703G>T (hg19) ; chr9:g.136511251G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511251G>T , CM000671.2:g.136511251G>T	GRCh38
NC_000009.11:g.139405703G>T , CM000671.1:g.139405703G>T	GRCh37
NC_000009.10:g.138525524G>T	NCBI36
NG_007458.1:g.39536C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.295C>A
ENST00000646957.2:n.111C>A
ENST00000651671.1:c.2488C>A MANE Select	ENSP00000498587.1:p.Leu830Met
ENST00000679595.1:c.2488C>A	ENSP00000506241.1:p.Leu830Met
ENST00000680133.1:c.2374C>A	ENSP00000505319.1:p.Leu792Met
ENST00000680218.1:c.2488C>A	ENSP00000505339.1:p.Leu830Met
ENST00000680668.1:c.2374C>A	ENSP00000506336.1:p.Leu792Met
ENST00000680778.1:c.85C>A	ENSP00000506033.1:p.Leu29Met
ENST00000680924.1:c.2488C>A	ENSP00000506031.1:p.Leu830Met
ENST00000681135.1:c.*97C>A	ENSP00000506636.1:n.*97C>A
ENST00000681454.1:c.*1724C>A	ENSP00000505763.1:n.*1724C>A
ENST00000277541.6:c.2488C>A	ENSP00000277541.6:p.Leu830Met
NM_017617.3:c.2488C>A	NP_060087.3:p.Leu830Met
XM_011518717.1:c.1789C>A	XP_011517019.1:p.Leu597Met
NM_017617.5:c.2488C>A MANE Select	NP_060087.3:p.Leu830Met
XM_011518717.2:c.1765C>A	XP_011517019.2:p.Leu589Met