Canonical Allele Identifier: CA375644165

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1744485
• ClinVar RCV Id: RCV002342858
• dbSNP Id: rs1262748307
• gnomAD v3: 9-136504717-C-G
• gnomAD v4: 9-136504717-C-G
• MyVariant Identifiers: chr9:g.139399169C>G (hg19) ; chr9:g.136504717C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504717C>G , CM000671.2:g.136504717C>G	GRCh38
NC_000009.11:g.139399169C>G , CM000671.1:g.139399169C>G	GRCh37
NC_000009.10:g.138518990C>G	NCBI36
NG_007458.1:g.46070G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2781G>C
ENST00000651671.1:c.4974G>C MANE Select	ENSP00000498587.1:p.Glu1658Asp
ENST00000679595.1:c.4974G>C	ENSP00000506241.1:p.Glu1658Asp
ENST00000680133.1:c.4860G>C	ENSP00000505319.1:p.Glu1620Asp
ENST00000680218.1:c.4854G>C	ENSP00000505339.1:p.Glu1618Asp
ENST00000680668.1:c.4860G>C	ENSP00000506336.1:p.Glu1620Asp
ENST00000680778.1:c.2571G>C	ENSP00000506033.1:p.Glu857Asp
ENST00000680924.1:c.*2374G>C	ENSP00000506031.1:n.*2374G>C
ENST00000681135.1:c.*2583G>C	ENSP00000506636.1:n.*2583G>C
ENST00000681298.1:n.1787G>C
ENST00000681454.1:c.*4210G>C	ENSP00000505763.1:n.*4210G>C
ENST00000277541.6:c.4974G>C	ENSP00000277541.6:p.Glu1658Asp
ENST00000494783.1:n.129G>C
NM_017617.3:c.4974G>C	NP_060087.3:p.Glu1658Asp
XM_011518717.1:c.4275G>C	XP_011517019.1:p.Glu1425Asp
NM_017617.5:c.4974G>C MANE Select	NP_060087.3:p.Glu1658Asp
XM_011518717.2:c.4251G>C	XP_011517019.2:p.Glu1417Asp