Canonical Allele Identifier: CA467741913

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843049354
• gnomAD v4: 9-136504695-G-A
• COSMIC: COSM308594
• MyVariant Identifiers: chr9:g.139399147G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504695G>A , CM000671.2:g.136504695G>A	GRCh38
NC_000009.11:g.139399147G>A , CM000671.1:g.139399147G>A	GRCh37
NC_000009.10:g.138518968G>A	NCBI36
NG_007458.1:g.46092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2803C>T
ENST00000651671.1:c.4996C>T MANE Select	ENSP00000498587.1:p.Leu1666=
ENST00000679595.1:c.4996C>T	ENSP00000506241.1:p.Leu1666=
ENST00000680133.1:c.4882C>T	ENSP00000505319.1:p.Leu1628=
ENST00000680218.1:c.4876C>T	ENSP00000505339.1:p.Leu1626=
ENST00000680668.1:c.4882C>T	ENSP00000506336.1:p.Leu1628=
ENST00000680778.1:c.2593C>T	ENSP00000506033.1:p.Leu865=
ENST00000680924.1:c.*2396C>T	ENSP00000506031.1:n.*2396C>T
ENST00000681135.1:c.*2605C>T	ENSP00000506636.1:n.*2605C>T
ENST00000681298.1:n.1809C>T
ENST00000681454.1:c.*4232C>T	ENSP00000505763.1:n.*4232C>T
ENST00000277541.6:c.4996C>T	ENSP00000277541.6:p.Leu1666=
ENST00000494783.1:n.151C>T
NM_017617.3:c.4996C>T	NP_060087.3:p.Leu1666=
XM_011518717.1:c.4297C>T	XP_011517019.1:p.Leu1433=
NM_017617.5:c.4996C>T MANE Select	NP_060087.3:p.Leu1666=
XM_011518717.2:c.4273C>T	XP_011517019.2:p.Leu1425=