Canonical Allele Identifier: CA375644201

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504725-C-A
• MyVariant Identifiers: chr9:g.139399177C>A (hg19) ; chr9:g.136504725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504725C>A , CM000671.2:g.136504725C>A	GRCh38
NC_000009.11:g.139399177C>A , CM000671.1:g.139399177C>A	GRCh37
NC_000009.10:g.138518998C>A	NCBI36
NG_007458.1:g.46062G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2773G>T
ENST00000651671.1:c.4966G>T MANE Select	ENSP00000498587.1:p.Gly1656Cys
ENST00000679595.1:c.4966G>T	ENSP00000506241.1:p.Gly1656Cys
ENST00000680133.1:c.4852G>T	ENSP00000505319.1:p.Gly1618Cys
ENST00000680218.1:c.4846G>T	ENSP00000505339.1:p.Gly1616Cys
ENST00000680668.1:c.4852G>T	ENSP00000506336.1:p.Gly1618Cys
ENST00000680778.1:c.2563G>T	ENSP00000506033.1:p.Gly855Cys
ENST00000680924.1:c.*2366G>T	ENSP00000506031.1:n.*2366G>T
ENST00000681135.1:c.*2575G>T	ENSP00000506636.1:n.*2575G>T
ENST00000681298.1:n.1779G>T
ENST00000681454.1:c.*4202G>T	ENSP00000505763.1:n.*4202G>T
ENST00000277541.6:c.4966G>T	ENSP00000277541.6:p.Gly1656Cys
ENST00000494783.1:n.121G>T
NM_017617.3:c.4966G>T	NP_060087.3:p.Gly1656Cys
XM_011518717.1:c.4267G>T	XP_011517019.1:p.Gly1423Cys
NM_017617.5:c.4966G>T MANE Select	NP_060087.3:p.Gly1656Cys
XM_011518717.2:c.4243G>T	XP_011517019.2:p.Gly1415Cys