Canonical Allele Identifier: CA375644169

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335826
• MyVariant Identifiers: chr9:g.139399170T>C (hg19) ; chr9:g.136504718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504718T>C , CM000671.2:g.136504718T>C	GRCh38
NC_000009.11:g.139399170T>C , CM000671.1:g.139399170T>C	GRCh37
NC_000009.10:g.138518991T>C	NCBI36
NG_007458.1:g.46069A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2780A>G
ENST00000651671.1:c.4973A>G MANE Select	ENSP00000498587.1:p.Glu1658Gly
ENST00000679595.1:c.4973A>G	ENSP00000506241.1:p.Glu1658Gly
ENST00000680133.1:c.4859A>G	ENSP00000505319.1:p.Glu1620Gly
ENST00000680218.1:c.4853A>G	ENSP00000505339.1:p.Glu1618Gly
ENST00000680668.1:c.4859A>G	ENSP00000506336.1:p.Glu1620Gly
ENST00000680778.1:c.2570A>G	ENSP00000506033.1:p.Glu857Gly
ENST00000680924.1:c.*2373A>G	ENSP00000506031.1:n.*2373A>G
ENST00000681135.1:c.*2582A>G	ENSP00000506636.1:n.*2582A>G
ENST00000681298.1:n.1786A>G
ENST00000681454.1:c.*4209A>G	ENSP00000505763.1:n.*4209A>G
ENST00000277541.6:c.4973A>G	ENSP00000277541.6:p.Glu1658Gly
ENST00000494783.1:n.128A>G
NM_017617.3:c.4973A>G	NP_060087.3:p.Glu1658Gly
XM_011518717.1:c.4274A>G	XP_011517019.1:p.Glu1425Gly
NM_017617.5:c.4973A>G MANE Select	NP_060087.3:p.Glu1658Gly
XM_011518717.2:c.4250A>G	XP_011517019.2:p.Glu1417Gly