Canonical Allele Identifier: CA375644956

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336752
• COSMIC: COSM1155770
• MyVariant Identifiers: chr9:g.139399347A>C (hg19) ; chr9:g.136504895A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504895A>C , CM000671.2:g.136504895A>C	GRCh38
NC_000009.11:g.139399347A>C , CM000671.1:g.139399347A>C	GRCh37
NC_000009.10:g.138519168A>C	NCBI36
NG_007458.1:g.45892T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2603T>G
ENST00000651671.1:c.4796T>G MANE Select	ENSP00000498587.1:p.Val1599Gly
ENST00000679595.1:c.4796T>G	ENSP00000506241.1:p.Val1599Gly
ENST00000680133.1:c.4682T>G	ENSP00000505319.1:p.Val1561Gly
ENST00000680218.1:c.4676T>G	ENSP00000505339.1:p.Val1559Gly
ENST00000680668.1:c.4682T>G	ENSP00000506336.1:p.Val1561Gly
ENST00000680778.1:c.2393T>G	ENSP00000506033.1:p.Val798Gly
ENST00000680924.1:c.*2196T>G	ENSP00000506031.1:n.*2196T>G
ENST00000681135.1:c.*2405T>G	ENSP00000506636.1:n.*2405T>G
ENST00000681298.1:n.1609T>G
ENST00000681454.1:c.*4032T>G	ENSP00000505763.1:n.*4032T>G
ENST00000277541.6:c.4796T>G	ENSP00000277541.6:p.Val1599Gly
NM_017617.3:c.4796T>G	NP_060087.3:p.Val1599Gly
XM_011518717.1:c.4097T>G	XP_011517019.1:p.Val1366Gly
NM_017617.5:c.4796T>G MANE Select	NP_060087.3:p.Val1599Gly
XM_011518717.2:c.4073T>G	XP_011517019.2:p.Val1358Gly