Canonical Allele Identifier: CA467832729

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336647
• MyVariant Identifiers: chr9:g.139399331C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504879C>T , CM000671.2:g.136504879C>T	GRCh38
NC_000009.11:g.139399331C>T , CM000671.1:g.139399331C>T	GRCh37
NC_000009.10:g.138519152C>T	NCBI36
NG_007458.1:g.45908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2619G>A
ENST00000651671.1:c.4812G>A MANE Select	ENSP00000498587.1:p.Val1604=
ENST00000679595.1:c.4812G>A	ENSP00000506241.1:p.Val1604=
ENST00000680133.1:c.4698G>A	ENSP00000505319.1:p.Val1566=
ENST00000680218.1:c.4692G>A	ENSP00000505339.1:p.Val1564=
ENST00000680668.1:c.4698G>A	ENSP00000506336.1:p.Val1566=
ENST00000680778.1:c.2409G>A	ENSP00000506033.1:p.Val803=
ENST00000680924.1:c.*2212G>A	ENSP00000506031.1:n.*2212G>A
ENST00000681135.1:c.*2421G>A	ENSP00000506636.1:n.*2421G>A
ENST00000681298.1:n.1625G>A
ENST00000681454.1:c.*4048G>A	ENSP00000505763.1:n.*4048G>A
ENST00000277541.6:c.4812G>A	ENSP00000277541.6:p.Val1604=
NM_017617.3:c.4812G>A	NP_060087.3:p.Val1604=
XM_011518717.1:c.4113G>A	XP_011517019.1:p.Val1371=
NM_017617.5:c.4812G>A MANE Select	NP_060087.3:p.Val1604=
XM_011518717.2:c.4089G>A	XP_011517019.2:p.Val1363=