Canonical Allele Identifier: CA375631246

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1321766637
• gnomAD v2: 9-139391628-C-T
• MyVariant Identifiers: chr9:g.139391628C>T (hg19) ; chr9:g.136497176C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497176C>T , CM000671.2:g.136497176C>T	GRCh38
NC_000009.11:g.139391628C>T , CM000671.1:g.139391628C>T	GRCh37
NC_000009.10:g.138511449C>T	NCBI36
NG_007458.1:g.53611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6563G>A MANE Select	ENSP00000498587.1:p.Gly2188Asp
ENST00000679595.1:c.*1603G>A	ENSP00000506241.1:n.*1603G>A
ENST00000679969.1:n.3159G>A
ENST00000680003.1:n.2895G>A
ENST00000680133.1:c.6449G>A	ENSP00000505319.1:p.Gly2150Asp
ENST00000680218.1:c.6443G>A	ENSP00000505339.1:p.Gly2148Asp
ENST00000680668.1:c.6449G>A	ENSP00000506336.1:p.Gly2150Asp
ENST00000680778.1:c.4160G>A	ENSP00000506033.1:p.Gly1387Asp
ENST00000680924.1:c.*3963G>A	ENSP00000506031.1:n.*3963G>A
ENST00000681135.1:c.*4172G>A	ENSP00000506636.1:n.*4172G>A
ENST00000681298.1:n.4668G>A
ENST00000681454.1:c.*5799G>A	ENSP00000505763.1:n.*5799G>A
ENST00000277541.6:c.6563G>A	ENSP00000277541.6:p.Gly2188Asp
NM_017617.3:c.6563G>A	NP_060087.3:p.Gly2188Asp
XM_011518717.1:c.5864G>A	XP_011517019.1:p.Gly1955Asp
NM_017617.5:c.6563G>A MANE Select	NP_060087.3:p.Gly2188Asp
XM_011518717.2:c.5840G>A	XP_011517019.2:p.Gly1947Asp