Canonical Allele Identifier: CA375645738

Gene: NOTCH1

Linked Data

• dbSNP Id: rs748862853
• gnomAD v4: 9-136505036-G-T
• MyVariant Identifiers: chr9:g.139399488G>T (hg19) ; chr9:g.136505036G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505036G>T , CM000671.2:g.136505036G>T	GRCh38
NC_000009.11:g.139399488G>T , CM000671.1:g.139399488G>T	GRCh37
NC_000009.10:g.138519309G>T	NCBI36
NG_007458.1:g.45751C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2462C>A
ENST00000651671.1:c.4655C>A MANE Select	ENSP00000498587.1:p.Ala1552Glu
ENST00000679595.1:c.4655C>A	ENSP00000506241.1:p.Ala1552Glu
ENST00000680133.1:c.4541C>A	ENSP00000505319.1:p.Ala1514Glu
ENST00000680218.1:c.4535C>A	ENSP00000505339.1:p.Ala1512Glu
ENST00000680668.1:c.4541C>A	ENSP00000506336.1:p.Ala1514Glu
ENST00000680778.1:c.2252C>A	ENSP00000506033.1:p.Ala751Glu
ENST00000680924.1:c.*2055C>A	ENSP00000506031.1:n.*2055C>A
ENST00000681135.1:c.*2264C>A	ENSP00000506636.1:n.*2264C>A
ENST00000681298.1:n.1468C>A
ENST00000681454.1:c.*3891C>A	ENSP00000505763.1:n.*3891C>A
ENST00000277541.6:c.4655C>A	ENSP00000277541.6:p.Ala1552Glu
NM_017617.3:c.4655C>A	NP_060087.3:p.Ala1552Glu
XM_011518717.1:c.3956C>A	XP_011517019.1:p.Ala1319Glu
NM_017617.5:c.4655C>A MANE Select	NP_060087.3:p.Ala1552Glu
XM_011518717.2:c.3932C>A	XP_011517019.2:p.Ala1311Glu