Canonical Allele Identifier: CA375631403

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1450558564
• gnomAD v2: 9-139391666-G-T
• gnomAD v4: 9-136497214-G-T
• MyVariant Identifiers: chr9:g.139391666G>T (hg19) ; chr9:g.136497214G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497214G>T , CM000671.2:g.136497214G>T	GRCh38
NC_000009.11:g.139391666G>T , CM000671.1:g.139391666G>T	GRCh37
NC_000009.10:g.138511487G>T	NCBI36
NG_007458.1:g.53573C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6525C>A MANE Select	ENSP00000498587.1:p.Asp2175Glu
ENST00000679595.1:c.*1565C>A	ENSP00000506241.1:n.*1565C>A
ENST00000679969.1:n.3121C>A
ENST00000680003.1:n.2857C>A
ENST00000680133.1:c.6411C>A	ENSP00000505319.1:p.Asp2137Glu
ENST00000680218.1:c.6405C>A	ENSP00000505339.1:p.Asp2135Glu
ENST00000680668.1:c.6411C>A	ENSP00000506336.1:p.Asp2137Glu
ENST00000680778.1:c.4122C>A	ENSP00000506033.1:p.Asp1374Glu
ENST00000680924.1:c.*3925C>A	ENSP00000506031.1:n.*3925C>A
ENST00000681135.1:c.*4134C>A	ENSP00000506636.1:n.*4134C>A
ENST00000681298.1:n.4630C>A
ENST00000681454.1:c.*5761C>A	ENSP00000505763.1:n.*5761C>A
ENST00000277541.6:c.6525C>A	ENSP00000277541.6:p.Asp2175Glu
NM_017617.3:c.6525C>A	NP_060087.3:p.Asp2175Glu
XM_011518717.1:c.5826C>A	XP_011517019.1:p.Asp1942Glu
NM_017617.5:c.6525C>A MANE Select	NP_060087.3:p.Asp2175Glu
XM_011518717.2:c.5802C>A	XP_011517019.2:p.Asp1934Glu