Canonical Allele Identifier: CA467742048

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1056512
• ClinVar RCV Id: RCV001365357
• dbSNP Id: rs1589058142
• MyVariant Identifiers: chr9:g.139399202C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504750C>T , CM000671.2:g.136504750C>T	GRCh38
NC_000009.11:g.139399202C>T , CM000671.1:g.139399202C>T	GRCh37
NC_000009.10:g.138519023C>T	NCBI36
NG_007458.1:g.46037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2748G>A
ENST00000651671.1:c.4941G>A MANE Select	ENSP00000498587.1:p.Gln1647=
ENST00000679595.1:c.4941G>A	ENSP00000506241.1:p.Gln1647=
ENST00000680133.1:c.4827G>A	ENSP00000505319.1:p.Gln1609=
ENST00000680218.1:c.4821G>A	ENSP00000505339.1:p.Gln1607=
ENST00000680668.1:c.4827G>A	ENSP00000506336.1:p.Gln1609=
ENST00000680778.1:c.2538G>A	ENSP00000506033.1:p.Gln846=
ENST00000680924.1:c.*2341G>A	ENSP00000506031.1:n.*2341G>A
ENST00000681135.1:c.*2550G>A	ENSP00000506636.1:n.*2550G>A
ENST00000681298.1:n.1754G>A
ENST00000681454.1:c.*4177G>A	ENSP00000505763.1:n.*4177G>A
ENST00000277541.6:c.4941G>A	ENSP00000277541.6:p.Gln1647=
ENST00000494783.1:n.96G>A
NM_017617.3:c.4941G>A	NP_060087.3:p.Gln1647=
XM_011518717.1:c.4242G>A	XP_011517019.1:p.Gln1414=
NM_017617.5:c.4941G>A MANE Select	NP_060087.3:p.Gln1647=
XM_011518717.2:c.4218G>A	XP_011517019.2:p.Gln1406=