Canonical Allele Identifier: CA5340517

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1743114
• ClinVar RCV Id: RCV002337821
• dbSNP Id: rs779195962
• ExAC: 9:139399351 G / A
• gnomAD v2: 9-139399351-G-A
• gnomAD v3: 9-136504899-G-A
• gnomAD v4: 9-136504899-G-A
• MyVariant Identifiers: chr9:g.139399351G>A (hg19) ; chr9:g.136504899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504899G>A , CM000671.2:g.136504899G>A	GRCh38
NC_000009.11:g.139399351G>A , CM000671.1:g.139399351G>A	GRCh37
NC_000009.10:g.138519172G>A	NCBI36
NG_007458.1:g.45888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2599C>T
ENST00000651671.1:c.4792C>T MANE Select	ENSP00000498587.1:p.Arg1598Cys
ENST00000679595.1:c.4792C>T	ENSP00000506241.1:p.Arg1598Cys
ENST00000680133.1:c.4678C>T	ENSP00000505319.1:p.Arg1560Cys
ENST00000680218.1:c.4672C>T	ENSP00000505339.1:p.Arg1558Cys
ENST00000680668.1:c.4678C>T	ENSP00000506336.1:p.Arg1560Cys
ENST00000680778.1:c.2389C>T	ENSP00000506033.1:p.Arg797Cys
ENST00000680924.1:c.*2192C>T	ENSP00000506031.1:n.*2192C>T
ENST00000681135.1:c.*2401C>T	ENSP00000506636.1:n.*2401C>T
ENST00000681298.1:n.1605C>T
ENST00000681454.1:c.*4028C>T	ENSP00000505763.1:n.*4028C>T
ENST00000277541.6:c.4792C>T	ENSP00000277541.6:p.Arg1598Cys
NM_017617.3:c.4792C>T	NP_060087.3:p.Arg1598Cys
XM_011518717.1:c.4093C>T	XP_011517019.1:p.Arg1365Cys
NM_017617.5:c.4792C>T MANE Select	NP_060087.3:p.Arg1598Cys
XM_011518717.2:c.4069C>T	XP_011517019.2:p.Arg1357Cys