Canonical Allele Identifier: CA375644205

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1744438
• ClinVar RCV Id: RCV002342817
• dbSNP Id: rs2133335858
• COSMIC: COSM33748
• MyVariant Identifiers: chr9:g.139399177C>T (hg19) ; chr9:g.136504725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504725C>T , CM000671.2:g.136504725C>T	GRCh38
NC_000009.11:g.139399177C>T , CM000671.1:g.139399177C>T	GRCh37
NC_000009.10:g.138518998C>T	NCBI36
NG_007458.1:g.46062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2773G>A
ENST00000651671.1:c.4966G>A MANE Select	ENSP00000498587.1:p.Gly1656Ser
ENST00000679595.1:c.4966G>A	ENSP00000506241.1:p.Gly1656Ser
ENST00000680133.1:c.4852G>A	ENSP00000505319.1:p.Gly1618Ser
ENST00000680218.1:c.4846G>A	ENSP00000505339.1:p.Gly1616Ser
ENST00000680668.1:c.4852G>A	ENSP00000506336.1:p.Gly1618Ser
ENST00000680778.1:c.2563G>A	ENSP00000506033.1:p.Gly855Ser
ENST00000680924.1:c.*2366G>A	ENSP00000506031.1:n.*2366G>A
ENST00000681135.1:c.*2575G>A	ENSP00000506636.1:n.*2575G>A
ENST00000681298.1:n.1779G>A
ENST00000681454.1:c.*4202G>A	ENSP00000505763.1:n.*4202G>A
ENST00000277541.6:c.4966G>A	ENSP00000277541.6:p.Gly1656Ser
ENST00000494783.1:n.121G>A
NM_017617.3:c.4966G>A	NP_060087.3:p.Gly1656Ser
XM_011518717.1:c.4267G>A	XP_011517019.1:p.Gly1423Ser
NM_017617.5:c.4966G>A MANE Select	NP_060087.3:p.Gly1656Ser
XM_011518717.2:c.4243G>A	XP_011517019.2:p.Gly1415Ser