Canonical Allele Identifier: CA5339902

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 264443
• ClinVar RCV Id: RCV000533845 ; RCV000680583 ; RCV001579856 ; RCV002270185 ; RCV004542957 ; RCV001170921
• dbSNP Id: rs369845924
• ExAC: 9:139391762 G / A
• gnomAD v2: 9-139391762-G-A
• gnomAD v3: 9-136497310-G-A
• gnomAD v4: 9-136497310-G-A
• MyVariant Identifiers: chr9:g.139391762G>A (hg19) ; chr9:g.136497310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497310G>A , CM000671.2:g.136497310G>A	GRCh38
NC_000009.11:g.139391762G>A , CM000671.1:g.139391762G>A	GRCh37
NC_000009.10:g.138511583G>A	NCBI36
NG_007458.1:g.53477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6429C>T MANE Select	ENSP00000498587.1:p.Asn2143=
ENST00000679595.1:c.*1469C>T	ENSP00000506241.1:n.*1469C>T
ENST00000679969.1:n.3025C>T
ENST00000680003.1:n.2761C>T
ENST00000680133.1:c.6315C>T	ENSP00000505319.1:p.Asn2105=
ENST00000680218.1:c.6309C>T	ENSP00000505339.1:p.Asn2103=
ENST00000680668.1:c.6315C>T	ENSP00000506336.1:p.Asn2105=
ENST00000680778.1:c.4026C>T	ENSP00000506033.1:p.Asn1342=
ENST00000680924.1:c.*3829C>T	ENSP00000506031.1:n.*3829C>T
ENST00000681135.1:c.*4038C>T	ENSP00000506636.1:n.*4038C>T
ENST00000681298.1:n.4534C>T
ENST00000681454.1:c.*5665C>T	ENSP00000505763.1:n.*5665C>T
ENST00000277541.6:c.6429C>T	ENSP00000277541.6:p.Asn2143=
NM_017617.3:c.6429C>T	NP_060087.3:p.Asn2143=
XM_011518717.1:c.5730C>T	XP_011517019.1:p.Asn1910=
NM_017617.5:c.6429C>T MANE Select	NP_060087.3:p.Asn2143=
XM_011518717.2:c.5706C>T	XP_011517019.2:p.Asn1902=