Canonical Allele Identifier: CA2692643129

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133369229
• gnomAD v4: 9-136517975-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517975C>T , CM000671.2:g.136517975C>T	GRCh38
NC_000009.11:g.139412427C>T , CM000671.1:g.139412427C>T	GRCh37
NC_000009.10:g.138532248C>T	NCBI36
NG_007458.1:g.32812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1256-38G>A MANE Select	ENSP00000498587.1:n.1256-38G>A
ENST00000679595.1:c.1256-38G>A	ENSP00000506241.1:n.1256-38G>A
ENST00000680133.1:c.1256-38G>A	ENSP00000505319.1:n.1256-38G>A
ENST00000680218.1:c.1256-38G>A	ENSP00000505339.1:n.1256-38G>A
ENST00000680668.1:c.1256-38G>A	ENSP00000506336.1:n.1256-38G>A
ENST00000680924.1:c.1256-38G>A	ENSP00000506031.1:n.1256-38G>A
ENST00000681135.1:c.1256-38G>A	ENSP00000506636.1:n.1256-38G>A
ENST00000681454.1:c.*492-38G>A	ENSP00000505763.1:n.*492-38G>A
ENST00000277541.6:c.1256-38G>A	ENSP00000277541.6:n.1256-38G>A
NM_017617.3:c.1256-38G>A	NP_060087.3:n.1256-38G>A
XM_011518717.1:c.557-38G>A	XP_011517019.1:n.557-38G>A
NM_017617.5:c.1256-38G>A MANE Select	NP_060087.3:n.1256-38G>A
XM_011518717.2:c.533-38G>A	XP_011517019.2:n.533-38G>A