Canonical Allele Identifier: CA5339872

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 707776
• ClinVar RCV Id: RCV000878928 ; RCV002363319
• dbSNP Id: rs747353119
• ExAC: 9:139391627 G / T
• gnomAD v2: 9-139391627-G-T
• gnomAD v4: 9-136497175-G-T
• MyVariant Identifiers: chr9:g.139391627G>T (hg19) ; chr9:g.136497175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497175G>T , CM000671.2:g.136497175G>T	GRCh38
NC_000009.11:g.139391627G>T , CM000671.1:g.139391627G>T	GRCh37
NC_000009.10:g.138511448G>T	NCBI36
NG_007458.1:g.53612C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6564C>A MANE Select	ENSP00000498587.1:p.Gly2188=
ENST00000679595.1:c.*1604C>A	ENSP00000506241.1:n.*1604C>A
ENST00000679969.1:n.3160C>A
ENST00000680003.1:n.2896C>A
ENST00000680133.1:c.6450C>A	ENSP00000505319.1:p.Gly2150=
ENST00000680218.1:c.6444C>A	ENSP00000505339.1:p.Gly2148=
ENST00000680668.1:c.6450C>A	ENSP00000506336.1:p.Gly2150=
ENST00000680778.1:c.4161C>A	ENSP00000506033.1:p.Gly1387=
ENST00000680924.1:c.*3964C>A	ENSP00000506031.1:n.*3964C>A
ENST00000681135.1:c.*4173C>A	ENSP00000506636.1:n.*4173C>A
ENST00000681298.1:n.4669C>A
ENST00000681454.1:c.*5800C>A	ENSP00000505763.1:n.*5800C>A
ENST00000277541.6:c.6564C>A	ENSP00000277541.6:p.Gly2188=
NM_017617.3:c.6564C>A	NP_060087.3:p.Gly2188=
XM_011518717.1:c.5865C>A	XP_011517019.1:p.Gly1955=
NM_017617.5:c.6564C>A MANE Select	NP_060087.3:p.Gly2188=
XM_011518717.2:c.5841C>A	XP_011517019.2:p.Gly1947=