Canonical Allele Identifier: CA375644221

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1479241
• ClinVar RCV Id: RCV001990898
• dbSNP Id: rs1381525257
• gnomAD v4: 9-136504730-G-T
• MyVariant Identifiers: chr9:g.139399182G>T (hg19) ; chr9:g.136504730G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504730G>T , CM000671.2:g.136504730G>T	GRCh38
NC_000009.11:g.139399182G>T , CM000671.1:g.139399182G>T	GRCh37
NC_000009.10:g.138519003G>T	NCBI36
NG_007458.1:g.46057C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2768C>A
ENST00000651671.1:c.4961C>A MANE Select	ENSP00000498587.1:p.Pro1654His
ENST00000679595.1:c.4961C>A	ENSP00000506241.1:p.Pro1654His
ENST00000680133.1:c.4847C>A	ENSP00000505319.1:p.Pro1616His
ENST00000680218.1:c.4841C>A	ENSP00000505339.1:p.Pro1614His
ENST00000680668.1:c.4847C>A	ENSP00000506336.1:p.Pro1616His
ENST00000680778.1:c.2558C>A	ENSP00000506033.1:p.Pro853His
ENST00000680924.1:c.*2361C>A	ENSP00000506031.1:n.*2361C>A
ENST00000681135.1:c.*2570C>A	ENSP00000506636.1:n.*2570C>A
ENST00000681298.1:n.1774C>A
ENST00000681454.1:c.*4197C>A	ENSP00000505763.1:n.*4197C>A
ENST00000277541.6:c.4961C>A	ENSP00000277541.6:p.Pro1654His
ENST00000494783.1:n.116C>A
NM_017617.3:c.4961C>A	NP_060087.3:p.Pro1654His
XM_011518717.1:c.4262C>A	XP_011517019.1:p.Pro1421His
NM_017617.5:c.4961C>A MANE Select	NP_060087.3:p.Pro1654His
XM_011518717.2:c.4238C>A	XP_011517019.2:p.Pro1413His