Canonical Allele Identifier: CA375644646

Gene: NOTCH1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2666A>C
ENST00000651671.1:c.4859A>C MANE Select	ENSP00000498587.1:p.Tyr1620Ser
ENST00000679595.1:c.4859A>C	ENSP00000506241.1:p.Tyr1620Ser
ENST00000680133.1:c.4745A>C	ENSP00000505319.1:p.Tyr1582Ser
ENST00000680218.1:c.4739A>C	ENSP00000505339.1:p.Tyr1580Ser
ENST00000680668.1:c.4745A>C	ENSP00000506336.1:p.Tyr1582Ser
ENST00000680778.1:c.2456A>C	ENSP00000506033.1:p.Tyr819Ser
ENST00000680924.1:c.*2259A>C	ENSP00000506031.1:n.*2259A>C
ENST00000681135.1:c.*2468A>C	ENSP00000506636.1:n.*2468A>C
ENST00000681298.1:n.1672A>C
ENST00000681454.1:c.*4095A>C	ENSP00000505763.1:n.*4095A>C
ENST00000277541.6:c.4859A>C	ENSP00000277541.6:p.Tyr1620Ser
ENST00000494783.1:n.14A>C
NM_017617.3:c.4859A>C	NP_060087.3:p.Tyr1620Ser
XM_011518717.1:c.4160A>C	XP_011517019.1:p.Tyr1387Ser
NM_017617.5:c.4859A>C MANE Select	NP_060087.3:p.Tyr1620Ser
XM_011518717.2:c.4136A>C	XP_011517019.2:p.Tyr1379Ser