Canonical Allele Identifier: CA375631409

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318164
• gnomAD v4: 9-136497216-C-A
• MyVariant Identifiers: chr9:g.139391668C>A (hg19) ; chr9:g.136497216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497216C>A , CM000671.2:g.136497216C>A	GRCh38
NC_000009.11:g.139391668C>A , CM000671.1:g.139391668C>A	GRCh37
NC_000009.10:g.138511489C>A	NCBI36
NG_007458.1:g.53571G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6523G>T MANE Select	ENSP00000498587.1:p.Asp2175Tyr
ENST00000679595.1:c.*1563G>T	ENSP00000506241.1:n.*1563G>T
ENST00000679969.1:n.3119G>T
ENST00000680003.1:n.2855G>T
ENST00000680133.1:c.6409G>T	ENSP00000505319.1:p.Asp2137Tyr
ENST00000680218.1:c.6403G>T	ENSP00000505339.1:p.Asp2135Tyr
ENST00000680668.1:c.6409G>T	ENSP00000506336.1:p.Asp2137Tyr
ENST00000680778.1:c.4120G>T	ENSP00000506033.1:p.Asp1374Tyr
ENST00000680924.1:c.*3923G>T	ENSP00000506031.1:n.*3923G>T
ENST00000681135.1:c.*4132G>T	ENSP00000506636.1:n.*4132G>T
ENST00000681298.1:n.4628G>T
ENST00000681454.1:c.*5759G>T	ENSP00000505763.1:n.*5759G>T
ENST00000277541.6:c.6523G>T	ENSP00000277541.6:p.Asp2175Tyr
NM_017617.3:c.6523G>T	NP_060087.3:p.Asp2175Tyr
XM_011518717.1:c.5824G>T	XP_011517019.1:p.Asp1942Tyr
NM_017617.5:c.6523G>T MANE Select	NP_060087.3:p.Asp2175Tyr
XM_011518717.2:c.5800G>T	XP_011517019.2:p.Asp1934Tyr