Canonical Allele Identifier: CA467717014

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133354935
• MyVariant Identifiers: chr9:g.139405701C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511249C>T , CM000671.2:g.136511249C>T	GRCh38
NC_000009.11:g.139405701C>T , CM000671.1:g.139405701C>T	GRCh37
NC_000009.10:g.138525522C>T	NCBI36
NG_007458.1:g.39538G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.297G>A
ENST00000646957.2:n.113G>A
ENST00000651671.1:c.2490G>A MANE Select	ENSP00000498587.1:p.Leu830=
ENST00000679595.1:c.2490G>A	ENSP00000506241.1:p.Leu830=
ENST00000680133.1:c.2376G>A	ENSP00000505319.1:p.Leu792=
ENST00000680218.1:c.2490G>A	ENSP00000505339.1:p.Leu830=
ENST00000680668.1:c.2376G>A	ENSP00000506336.1:p.Leu792=
ENST00000680778.1:c.87G>A	ENSP00000506033.1:p.Leu29=
ENST00000680924.1:c.2490G>A	ENSP00000506031.1:p.Leu830=
ENST00000681135.1:c.*99G>A	ENSP00000506636.1:n.*99G>A
ENST00000681454.1:c.*1726G>A	ENSP00000505763.1:n.*1726G>A
ENST00000277541.6:c.2490G>A	ENSP00000277541.6:p.Leu830=
NM_017617.3:c.2490G>A	NP_060087.3:p.Leu830=
XM_011518717.1:c.1791G>A	XP_011517019.1:p.Leu597=
NM_017617.5:c.2490G>A MANE Select	NP_060087.3:p.Leu830=
XM_011518717.2:c.1767G>A	XP_011517019.2:p.Leu589=