Canonical Allele Identifier: CA2692643142

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133369291
• gnomAD v4: 9-136517985-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517985T>C , CM000671.2:g.136517985T>C	GRCh38
NC_000009.11:g.139412437T>C , CM000671.1:g.139412437T>C	GRCh37
NC_000009.10:g.138532258T>C	NCBI36
NG_007458.1:g.32802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1256-48A>G MANE Select	ENSP00000498587.1:n.1256-48A>G
ENST00000679595.1:c.1256-48A>G	ENSP00000506241.1:n.1256-48A>G
ENST00000680133.1:c.1256-48A>G	ENSP00000505319.1:n.1256-48A>G
ENST00000680218.1:c.1256-48A>G	ENSP00000505339.1:n.1256-48A>G
ENST00000680668.1:c.1256-48A>G	ENSP00000506336.1:n.1256-48A>G
ENST00000680924.1:c.1256-48A>G	ENSP00000506031.1:n.1256-48A>G
ENST00000681135.1:c.1256-48A>G	ENSP00000506636.1:n.1256-48A>G
ENST00000681454.1:c.*492-48A>G	ENSP00000505763.1:n.*492-48A>G
ENST00000277541.6:c.1256-48A>G	ENSP00000277541.6:n.1256-48A>G
NM_017617.3:c.1256-48A>G	NP_060087.3:n.1256-48A>G
XM_011518717.1:c.557-48A>G	XP_011517019.1:n.557-48A>G
NM_017617.5:c.1256-48A>G MANE Select	NP_060087.3:n.1256-48A>G
XM_011518717.2:c.533-48A>G	XP_011517019.2:n.533-48A>G