Canonical Allele Identifier: CA375644243

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335907
• gnomAD v4: 9-136504736-A-T
• MyVariant Identifiers: chr9:g.139399188A>T (hg19) ; chr9:g.136504736A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504736A>T , CM000671.2:g.136504736A>T	GRCh38
NC_000009.11:g.139399188A>T , CM000671.1:g.139399188A>T	GRCh37
NC_000009.10:g.138519009A>T	NCBI36
NG_007458.1:g.46051T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2762T>A
ENST00000651671.1:c.4955T>A MANE Select	ENSP00000498587.1:p.Leu1652Gln
ENST00000679595.1:c.4955T>A	ENSP00000506241.1:p.Leu1652Gln
ENST00000680133.1:c.4841T>A	ENSP00000505319.1:p.Leu1614Gln
ENST00000680218.1:c.4835T>A	ENSP00000505339.1:p.Leu1612Gln
ENST00000680668.1:c.4841T>A	ENSP00000506336.1:p.Leu1614Gln
ENST00000680778.1:c.2552T>A	ENSP00000506033.1:p.Leu851Gln
ENST00000680924.1:c.*2355T>A	ENSP00000506031.1:n.*2355T>A
ENST00000681135.1:c.*2564T>A	ENSP00000506636.1:n.*2564T>A
ENST00000681298.1:n.1768T>A
ENST00000681454.1:c.*4191T>A	ENSP00000505763.1:n.*4191T>A
ENST00000277541.6:c.4955T>A	ENSP00000277541.6:p.Leu1652Gln
ENST00000494783.1:n.110T>A
NM_017617.3:c.4955T>A	NP_060087.3:p.Leu1652Gln
XM_011518717.1:c.4256T>A	XP_011517019.1:p.Leu1419Gln
NM_017617.5:c.4955T>A MANE Select	NP_060087.3:p.Leu1652Gln
XM_011518717.2:c.4232T>A	XP_011517019.2:p.Leu1411Gln