Canonical Allele Identifier: CA467832458

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2916458
• ClinVar RCV Id: RCV003749714
• dbSNP Id: rs1842931843
• gnomAD v4: 9-136497259-C-T
• MyVariant Identifiers: chr9:g.139391711C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497259C>T , CM000671.2:g.136497259C>T	GRCh38
NC_000009.11:g.139391711C>T , CM000671.1:g.139391711C>T	GRCh37
NC_000009.10:g.138511532C>T	NCBI36
NG_007458.1:g.53528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6480G>A MANE Select	ENSP00000498587.1:p.Lys2160=
ENST00000679595.1:c.*1520G>A	ENSP00000506241.1:n.*1520G>A
ENST00000679969.1:n.3076G>A
ENST00000680003.1:n.2812G>A
ENST00000680133.1:c.6366G>A	ENSP00000505319.1:p.Lys2122=
ENST00000680218.1:c.6360G>A	ENSP00000505339.1:p.Lys2120=
ENST00000680668.1:c.6366G>A	ENSP00000506336.1:p.Lys2122=
ENST00000680778.1:c.4077G>A	ENSP00000506033.1:p.Lys1359=
ENST00000680924.1:c.*3880G>A	ENSP00000506031.1:n.*3880G>A
ENST00000681135.1:c.*4089G>A	ENSP00000506636.1:n.*4089G>A
ENST00000681298.1:n.4585G>A
ENST00000681454.1:c.*5716G>A	ENSP00000505763.1:n.*5716G>A
ENST00000277541.6:c.6480G>A	ENSP00000277541.6:p.Lys2160=
NM_017617.3:c.6480G>A	NP_060087.3:p.Lys2160=
XM_011518717.1:c.5781G>A	XP_011517019.1:p.Lys1927=
NM_017617.5:c.6480G>A MANE Select	NP_060087.3:p.Lys2160=
XM_011518717.2:c.5757G>A	XP_011517019.2:p.Lys1919=