Canonical Allele Identifier: CA375644449

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336165
• gnomAD v4: 9-136504790-G-A
• COSMIC: COSM308589
• MyVariant Identifiers: chr9:g.139399242G>A (hg19) ; chr9:g.136504790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504790G>A , CM000671.2:g.136504790G>A	GRCh38
NC_000009.11:g.139399242G>A , CM000671.1:g.139399242G>A	GRCh37
NC_000009.10:g.138519063G>A	NCBI36
NG_007458.1:g.45997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2708C>T
ENST00000651671.1:c.4901C>T MANE Select	ENSP00000498587.1:p.Ala1634Val
ENST00000679595.1:c.4901C>T	ENSP00000506241.1:p.Ala1634Val
ENST00000680133.1:c.4787C>T	ENSP00000505319.1:p.Ala1596Val
ENST00000680218.1:c.4781C>T	ENSP00000505339.1:p.Ala1594Val
ENST00000680668.1:c.4787C>T	ENSP00000506336.1:p.Ala1596Val
ENST00000680778.1:c.2498C>T	ENSP00000506033.1:p.Ala833Val
ENST00000680924.1:c.*2301C>T	ENSP00000506031.1:n.*2301C>T
ENST00000681135.1:c.*2510C>T	ENSP00000506636.1:n.*2510C>T
ENST00000681298.1:n.1714C>T
ENST00000681454.1:c.*4137C>T	ENSP00000505763.1:n.*4137C>T
ENST00000277541.6:c.4901C>T	ENSP00000277541.6:p.Ala1634Val
ENST00000494783.1:n.56C>T
NM_017617.3:c.4901C>T	NP_060087.3:p.Ala1634Val
XM_011518717.1:c.4202C>T	XP_011517019.1:p.Ala1401Val
NM_017617.5:c.4901C>T MANE Select	NP_060087.3:p.Ala1634Val
XM_011518717.2:c.4178C>T	XP_011517019.2:p.Ala1393Val