Canonical Allele Identifier: CA375644872

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336651
• COSMIC: COSM308596
• MyVariant Identifiers: chr9:g.139399332A>C (hg19) ; chr9:g.136504880A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504880A>C , CM000671.2:g.136504880A>C	GRCh38
NC_000009.11:g.139399332A>C , CM000671.1:g.139399332A>C	GRCh37
NC_000009.10:g.138519153A>C	NCBI36
NG_007458.1:g.45907T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2618T>G
ENST00000651671.1:c.4811T>G MANE Select	ENSP00000498587.1:p.Val1604Gly
ENST00000679595.1:c.4811T>G	ENSP00000506241.1:p.Val1604Gly
ENST00000680133.1:c.4697T>G	ENSP00000505319.1:p.Val1566Gly
ENST00000680218.1:c.4691T>G	ENSP00000505339.1:p.Val1564Gly
ENST00000680668.1:c.4697T>G	ENSP00000506336.1:p.Val1566Gly
ENST00000680778.1:c.2408T>G	ENSP00000506033.1:p.Val803Gly
ENST00000680924.1:c.*2211T>G	ENSP00000506031.1:n.*2211T>G
ENST00000681135.1:c.*2420T>G	ENSP00000506636.1:n.*2420T>G
ENST00000681298.1:n.1624T>G
ENST00000681454.1:c.*4047T>G	ENSP00000505763.1:n.*4047T>G
ENST00000277541.6:c.4811T>G	ENSP00000277541.6:p.Val1604Gly
NM_017617.3:c.4811T>G	NP_060087.3:p.Val1604Gly
XM_011518717.1:c.4112T>G	XP_011517019.1:p.Val1371Gly
NM_017617.5:c.4811T>G MANE Select	NP_060087.3:p.Val1604Gly
XM_011518717.2:c.4088T>G	XP_011517019.2:p.Val1363Gly