Canonical Allele Identifier: CA467742297

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336196
• COSMIC: COSM33752
• MyVariant Identifiers: chr9:g.139399250G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504798G>A , CM000671.2:g.136504798G>A	GRCh38
NC_000009.11:g.139399250G>A , CM000671.1:g.139399250G>A	GRCh37
NC_000009.10:g.138519071G>A	NCBI36
NG_007458.1:g.45989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2700C>T
ENST00000651671.1:c.4893C>T MANE Select	ENSP00000498587.1:p.Ile1631=
ENST00000679595.1:c.4893C>T	ENSP00000506241.1:p.Ile1631=
ENST00000680133.1:c.4779C>T	ENSP00000505319.1:p.Ile1593=
ENST00000680218.1:c.4773C>T	ENSP00000505339.1:p.Ile1591=
ENST00000680668.1:c.4779C>T	ENSP00000506336.1:p.Ile1593=
ENST00000680778.1:c.2490C>T	ENSP00000506033.1:p.Ile830=
ENST00000680924.1:c.*2293C>T	ENSP00000506031.1:n.*2293C>T
ENST00000681135.1:c.*2502C>T	ENSP00000506636.1:n.*2502C>T
ENST00000681298.1:n.1706C>T
ENST00000681454.1:c.*4129C>T	ENSP00000505763.1:n.*4129C>T
ENST00000277541.6:c.4893C>T	ENSP00000277541.6:p.Ile1631=
ENST00000494783.1:n.48C>T
NM_017617.3:c.4893C>T	NP_060087.3:p.Ile1631=
XM_011518717.1:c.4194C>T	XP_011517019.1:p.Ile1398=
NM_017617.5:c.4893C>T MANE Select	NP_060087.3:p.Ile1631=
XM_011518717.2:c.4170C>T	XP_011517019.2:p.Ile1390=