Canonical Allele Identifier: CA5340052

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1751336
• ClinVar RCV Id: RCV002358323 ; RCV003098119
• dbSNP Id: rs765374882
• ExAC: 9:139393586 G / A
• gnomAD v2: 9-139393586-G-A
• gnomAD v4: 9-136499134-G-A
• COSMIC: COSM3215895 ; COSM3215896
• MyVariant Identifiers: chr9:g.139393586G>A (hg19) ; chr9:g.136499134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499134G>A , CM000671.2:g.136499134G>A	GRCh38
NC_000009.11:g.139393586G>A , CM000671.1:g.139393586G>A	GRCh37
NC_000009.10:g.138513407G>A	NCBI36
NG_007458.1:g.51653C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6060C>T MANE Select	ENSP00000498587.1:p.Asp2020=
ENST00000679595.1:c.*1100C>T	ENSP00000506241.1:n.*1100C>T
ENST00000679969.1:n.2541C>T
ENST00000680003.1:n.2392C>T
ENST00000680133.1:c.5946C>T	ENSP00000505319.1:p.Asp1982=
ENST00000680218.1:c.5940C>T	ENSP00000505339.1:p.Asp1980=
ENST00000680668.1:c.5946C>T	ENSP00000506336.1:p.Asp1982=
ENST00000680778.1:c.3657C>T	ENSP00000506033.1:p.Asp1219=
ENST00000680924.1:c.*3460C>T	ENSP00000506031.1:n.*3460C>T
ENST00000681135.1:c.*3669C>T	ENSP00000506636.1:n.*3669C>T
ENST00000681298.1:n.4165C>T
ENST00000681454.1:c.*5296C>T	ENSP00000505763.1:n.*5296C>T
ENST00000277541.6:c.6060C>T	ENSP00000277541.6:p.Asp2020=
NM_017617.3:c.6060C>T	NP_060087.3:p.Asp2020=
XM_011518717.1:c.5361C>T	XP_011517019.1:p.Asp1787=
NM_017617.5:c.6060C>T MANE Select	NP_060087.3:p.Asp2020=
XM_011518717.2:c.5337C>T	XP_011517019.2:p.Asp1779=