Canonical Allele Identifier: CA467742161

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336069
• gnomAD v4: 9-136504771-T-C
• MyVariant Identifiers: chr9:g.139399223T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504771T>C , CM000671.2:g.136504771T>C	GRCh38
NC_000009.11:g.139399223T>C , CM000671.1:g.139399223T>C	GRCh37
NC_000009.10:g.138519044T>C	NCBI36
NG_007458.1:g.46016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2727A>G
ENST00000651671.1:c.4920A>G MANE Select	ENSP00000498587.1:p.Ala1640=
ENST00000679595.1:c.4920A>G	ENSP00000506241.1:p.Ala1640=
ENST00000680133.1:c.4806A>G	ENSP00000505319.1:p.Ala1602=
ENST00000680218.1:c.4800A>G	ENSP00000505339.1:p.Ala1600=
ENST00000680668.1:c.4806A>G	ENSP00000506336.1:p.Ala1602=
ENST00000680778.1:c.2517A>G	ENSP00000506033.1:p.Ala839=
ENST00000680924.1:c.*2320A>G	ENSP00000506031.1:n.*2320A>G
ENST00000681135.1:c.*2529A>G	ENSP00000506636.1:n.*2529A>G
ENST00000681298.1:n.1733A>G
ENST00000681454.1:c.*4156A>G	ENSP00000505763.1:n.*4156A>G
ENST00000277541.6:c.4920A>G	ENSP00000277541.6:p.Ala1640=
ENST00000494783.1:n.75A>G
NM_017617.3:c.4920A>G	NP_060087.3:p.Ala1640=
XM_011518717.1:c.4221A>G	XP_011517019.1:p.Ala1407=
NM_017617.5:c.4920A>G MANE Select	NP_060087.3:p.Ala1640=
XM_011518717.2:c.4197A>G	XP_011517019.2:p.Ala1399=