Canonical Allele Identifier: CA467832749

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336800
• MyVariant Identifiers: chr9:g.139399355G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504903G>T , CM000671.2:g.136504903G>T	GRCh38
NC_000009.11:g.139399355G>T , CM000671.1:g.139399355G>T	GRCh37
NC_000009.10:g.138519176G>T	NCBI36
NG_007458.1:g.45884C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2595C>A
ENST00000651671.1:c.4788C>A MANE Select	ENSP00000498587.1:p.Leu1596=
ENST00000679595.1:c.4788C>A	ENSP00000506241.1:p.Leu1596=
ENST00000680133.1:c.4674C>A	ENSP00000505319.1:p.Leu1558=
ENST00000680218.1:c.4668C>A	ENSP00000505339.1:p.Leu1556=
ENST00000680668.1:c.4674C>A	ENSP00000506336.1:p.Leu1558=
ENST00000680778.1:c.2385C>A	ENSP00000506033.1:p.Leu795=
ENST00000680924.1:c.*2188C>A	ENSP00000506031.1:n.*2188C>A
ENST00000681135.1:c.*2397C>A	ENSP00000506636.1:n.*2397C>A
ENST00000681298.1:n.1601C>A
ENST00000681454.1:c.*4024C>A	ENSP00000505763.1:n.*4024C>A
ENST00000277541.6:c.4788C>A	ENSP00000277541.6:p.Leu1596=
NM_017617.3:c.4788C>A	NP_060087.3:p.Leu1596=
XM_011518717.1:c.4089C>A	XP_011517019.1:p.Leu1363=
NM_017617.5:c.4788C>A MANE Select	NP_060087.3:p.Leu1596=
XM_011518717.2:c.4065C>A	XP_011517019.2:p.Leu1355=