Canonical Allele Identifier: CA375644332

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335977
• gnomAD v4: 9-136504755-C-A
• MyVariant Identifiers: chr9:g.139399207C>A (hg19) ; chr9:g.136504755C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504755C>A , CM000671.2:g.136504755C>A	GRCh38
NC_000009.11:g.139399207C>A , CM000671.1:g.139399207C>A	GRCh37
NC_000009.10:g.138519028C>A	NCBI36
NG_007458.1:g.46032G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2743G>T
ENST00000651671.1:c.4936G>T MANE Select	ENSP00000498587.1:p.Gly1646Cys
ENST00000679595.1:c.4936G>T	ENSP00000506241.1:p.Gly1646Cys
ENST00000680133.1:c.4822G>T	ENSP00000505319.1:p.Gly1608Cys
ENST00000680218.1:c.4816G>T	ENSP00000505339.1:p.Gly1606Cys
ENST00000680668.1:c.4822G>T	ENSP00000506336.1:p.Gly1608Cys
ENST00000680778.1:c.2533G>T	ENSP00000506033.1:p.Gly845Cys
ENST00000680924.1:c.*2336G>T	ENSP00000506031.1:n.*2336G>T
ENST00000681135.1:c.*2545G>T	ENSP00000506636.1:n.*2545G>T
ENST00000681298.1:n.1749G>T
ENST00000681454.1:c.*4172G>T	ENSP00000505763.1:n.*4172G>T
ENST00000277541.6:c.4936G>T	ENSP00000277541.6:p.Gly1646Cys
ENST00000494783.1:n.91G>T
NM_017617.3:c.4936G>T	NP_060087.3:p.Gly1646Cys
XM_011518717.1:c.4237G>T	XP_011517019.1:p.Gly1413Cys
NM_017617.5:c.4936G>T MANE Select	NP_060087.3:p.Gly1646Cys
XM_011518717.2:c.4213G>T	XP_011517019.2:p.Gly1405Cys