Canonical Allele Identifier: CA375633805

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2128884
• ClinVar RCV Id: RCV003057801
• gnomAD v4: 9-136498922-T-C
• MyVariant Identifiers: chr9:g.139393374T>C (hg19) ; chr9:g.136498922T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498922T>C , CM000671.2:g.136498922T>C	GRCh38
NC_000009.11:g.139393374T>C , CM000671.1:g.139393374T>C	GRCh37
NC_000009.10:g.138513195T>C	NCBI36
NG_007458.1:g.51865A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6157A>G MANE Select	ENSP00000498587.1:p.Asn2053Asp
ENST00000679595.1:c.*1197A>G	ENSP00000506241.1:n.*1197A>G
ENST00000679969.1:n.2753A>G
ENST00000680003.1:n.2489A>G
ENST00000680133.1:c.6043A>G	ENSP00000505319.1:p.Asn2015Asp
ENST00000680218.1:c.6037A>G	ENSP00000505339.1:p.Asn2013Asp
ENST00000680668.1:c.6043A>G	ENSP00000506336.1:p.Asn2015Asp
ENST00000680778.1:c.3754A>G	ENSP00000506033.1:p.Asn1252Asp
ENST00000680924.1:c.*3557A>G	ENSP00000506031.1:n.*3557A>G
ENST00000681135.1:c.*3766A>G	ENSP00000506636.1:n.*3766A>G
ENST00000681298.1:n.4262A>G
ENST00000681454.1:c.*5393A>G	ENSP00000505763.1:n.*5393A>G
ENST00000277541.6:c.6157A>G	ENSP00000277541.6:p.Asn2053Asp
NM_017617.3:c.6157A>G	NP_060087.3:p.Asn2053Asp
XM_011518717.1:c.5458A>G	XP_011517019.1:p.Asn1820Asp
NM_017617.5:c.6157A>G MANE Select	NP_060087.3:p.Asn2053Asp
XM_011518717.2:c.5434A>G	XP_011517019.2:p.Asn1812Asp