Canonical Allele Identifier: CA5340546

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 415404
• ClinVar RCV Id: RCV000476198 ; RCV002329126 ; RCV001550775 ; RCV002270531 ; RCV004535473
• dbSNP Id: rs368495371
• ExAC: 9:139399490 G / A
• gnomAD v2: 9-139399490-G-A
• gnomAD v3: 9-136505038-G-A
• gnomAD v4: 9-136505038-G-A
• MyVariant Identifiers: chr9:g.139399490G>A (hg19) ; chr9:g.136505038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505038G>A , CM000671.2:g.136505038G>A	GRCh38
NC_000009.11:g.139399490G>A , CM000671.1:g.139399490G>A	GRCh37
NC_000009.10:g.138519311G>A	NCBI36
NG_007458.1:g.45749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2460C>T
ENST00000651671.1:c.4653C>T MANE Select	ENSP00000498587.1:p.Ser1551=
ENST00000679595.1:c.4653C>T	ENSP00000506241.1:p.Ser1551=
ENST00000680133.1:c.4539C>T	ENSP00000505319.1:p.Ser1513=
ENST00000680218.1:c.4533C>T	ENSP00000505339.1:p.Ser1511=
ENST00000680668.1:c.4539C>T	ENSP00000506336.1:p.Ser1513=
ENST00000680778.1:c.2250C>T	ENSP00000506033.1:p.Ser750=
ENST00000680924.1:c.*2053C>T	ENSP00000506031.1:n.*2053C>T
ENST00000681135.1:c.*2262C>T	ENSP00000506636.1:n.*2262C>T
ENST00000681298.1:n.1466C>T
ENST00000681454.1:c.*3889C>T	ENSP00000505763.1:n.*3889C>T
ENST00000277541.6:c.4653C>T	ENSP00000277541.6:p.Ser1551=
NM_017617.3:c.4653C>T	NP_060087.3:p.Ser1551=
XM_011518717.1:c.3954C>T	XP_011517019.1:p.Ser1318=
NM_017617.5:c.4653C>T MANE Select	NP_060087.3:p.Ser1551=
XM_011518717.2:c.3930C>T	XP_011517019.2:p.Ser1310=