Canonical Allele Identifier: CA375644644

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336386
• MyVariant Identifiers: chr9:g.139399284T>C (hg19) ; chr9:g.136504832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504832T>C , CM000671.2:g.136504832T>C	GRCh38
NC_000009.11:g.139399284T>C , CM000671.1:g.139399284T>C	GRCh37
NC_000009.10:g.138519105T>C	NCBI36
NG_007458.1:g.45955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2666A>G
ENST00000651671.1:c.4859A>G MANE Select	ENSP00000498587.1:p.Tyr1620Cys
ENST00000679595.1:c.4859A>G	ENSP00000506241.1:p.Tyr1620Cys
ENST00000680133.1:c.4745A>G	ENSP00000505319.1:p.Tyr1582Cys
ENST00000680218.1:c.4739A>G	ENSP00000505339.1:p.Tyr1580Cys
ENST00000680668.1:c.4745A>G	ENSP00000506336.1:p.Tyr1582Cys
ENST00000680778.1:c.2456A>G	ENSP00000506033.1:p.Tyr819Cys
ENST00000680924.1:c.*2259A>G	ENSP00000506031.1:n.*2259A>G
ENST00000681135.1:c.*2468A>G	ENSP00000506636.1:n.*2468A>G
ENST00000681298.1:n.1672A>G
ENST00000681454.1:c.*4095A>G	ENSP00000505763.1:n.*4095A>G
ENST00000277541.6:c.4859A>G	ENSP00000277541.6:p.Tyr1620Cys
ENST00000494783.1:n.14A>G
NM_017617.3:c.4859A>G	NP_060087.3:p.Tyr1620Cys
XM_011518717.1:c.4160A>G	XP_011517019.1:p.Tyr1387Cys
NM_017617.5:c.4859A>G MANE Select	NP_060087.3:p.Tyr1620Cys
XM_011518717.2:c.4136A>G	XP_011517019.2:p.Tyr1379Cys