Canonical Allele Identifier: CA375644420

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 938958
• ClinVar RCV Id: RCV001208271
• dbSNP Id: rs1275439825
• gnomAD v4: 9-136504783-C-A
• MyVariant Identifiers: chr9:g.139399235C>A (hg19) ; chr9:g.136504783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504783C>A , CM000671.2:g.136504783C>A	GRCh38
NC_000009.11:g.139399235C>A , CM000671.1:g.139399235C>A	GRCh37
NC_000009.10:g.138519056C>A	NCBI36
NG_007458.1:g.46004G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2715G>T
ENST00000651671.1:c.4908G>T MANE Select	ENSP00000498587.1:p.Glu1636Asp
ENST00000679595.1:c.4908G>T	ENSP00000506241.1:p.Glu1636Asp
ENST00000680133.1:c.4794G>T	ENSP00000505319.1:p.Glu1598Asp
ENST00000680218.1:c.4788G>T	ENSP00000505339.1:p.Glu1596Asp
ENST00000680668.1:c.4794G>T	ENSP00000506336.1:p.Glu1598Asp
ENST00000680778.1:c.2505G>T	ENSP00000506033.1:p.Glu835Asp
ENST00000680924.1:c.*2308G>T	ENSP00000506031.1:n.*2308G>T
ENST00000681135.1:c.*2517G>T	ENSP00000506636.1:n.*2517G>T
ENST00000681298.1:n.1721G>T
ENST00000681454.1:c.*4144G>T	ENSP00000505763.1:n.*4144G>T
ENST00000277541.6:c.4908G>T	ENSP00000277541.6:p.Glu1636Asp
ENST00000494783.1:n.63G>T
NM_017617.3:c.4908G>T	NP_060087.3:p.Glu1636Asp
XM_011518717.1:c.4209G>T	XP_011517019.1:p.Glu1403Asp
NM_017617.5:c.4908G>T MANE Select	NP_060087.3:p.Glu1636Asp
XM_011518717.2:c.4185G>T	XP_011517019.2:p.Glu1395Asp