Canonical Allele Identifier: CA375646066

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337858
• MyVariant Identifiers: chr9:g.139399548T>C (hg19) ; chr9:g.136505096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505096T>C , CM000671.2:g.136505096T>C	GRCh38
NC_000009.11:g.139399548T>C , CM000671.1:g.139399548T>C	GRCh37
NC_000009.10:g.138519369T>C	NCBI36
NG_007458.1:g.45691A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2402A>G
ENST00000651671.1:c.4595A>G MANE Select	ENSP00000498587.1:p.Tyr1532Cys
ENST00000679595.1:c.4595A>G	ENSP00000506241.1:p.Tyr1532Cys
ENST00000680133.1:c.4481A>G	ENSP00000505319.1:p.Tyr1494Cys
ENST00000680218.1:c.4475A>G	ENSP00000505339.1:p.Tyr1492Cys
ENST00000680668.1:c.4481A>G	ENSP00000506336.1:p.Tyr1494Cys
ENST00000680778.1:c.2192A>G	ENSP00000506033.1:p.Tyr731Cys
ENST00000680924.1:c.*1995A>G	ENSP00000506031.1:n.*1995A>G
ENST00000681135.1:c.*2204A>G	ENSP00000506636.1:n.*2204A>G
ENST00000681298.1:n.1408A>G
ENST00000681454.1:c.*3831A>G	ENSP00000505763.1:n.*3831A>G
ENST00000277541.6:c.4595A>G	ENSP00000277541.6:p.Tyr1532Cys
NM_017617.3:c.4595A>G	NP_060087.3:p.Tyr1532Cys
XM_011518717.1:c.3896A>G	XP_011517019.1:p.Tyr1299Cys
NM_017617.5:c.4595A>G MANE Select	NP_060087.3:p.Tyr1532Cys
XM_011518717.2:c.3872A>G	XP_011517019.2:p.Tyr1291Cys