Canonical Allele Identifier: CA2692643145

Gene: NOTCH1

Linked Data

• dbSNP Id: rs112799526
• gnomAD v4: 9-136517987-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517987C>G , CM000671.2:g.136517987C>G	GRCh38
NC_000009.11:g.139412439C>G , CM000671.1:g.139412439C>G	GRCh37
NC_000009.10:g.138532260C>G	NCBI36
NG_007458.1:g.32800G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1256-50G>C MANE Select	ENSP00000498587.1:n.1256-50G>C
ENST00000679595.1:c.1256-50G>C	ENSP00000506241.1:n.1256-50G>C
ENST00000680133.1:c.1256-50G>C	ENSP00000505319.1:n.1256-50G>C
ENST00000680218.1:c.1256-50G>C	ENSP00000505339.1:n.1256-50G>C
ENST00000680668.1:c.1256-50G>C	ENSP00000506336.1:n.1256-50G>C
ENST00000680924.1:c.1256-50G>C	ENSP00000506031.1:n.1256-50G>C
ENST00000681135.1:c.1256-50G>C	ENSP00000506636.1:n.1256-50G>C
ENST00000681454.1:c.*492-50G>C	ENSP00000505763.1:n.*492-50G>C
ENST00000277541.6:c.1256-50G>C	ENSP00000277541.6:n.1256-50G>C
NM_017617.3:c.1256-50G>C	NP_060087.3:n.1256-50G>C
XM_011518717.1:c.557-50G>C	XP_011517019.1:n.557-50G>C
NM_017617.5:c.1256-50G>C MANE Select	NP_060087.3:n.1256-50G>C
XM_011518717.2:c.533-50G>C	XP_011517019.2:n.533-50G>C