Canonical Allele Identifier: CA5340483

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 477936
• ClinVar RCV Id: RCV000557460 ; RCV000766056 ; RCV001553148 ; RCV002315052
• dbSNP Id: rs749490844
• ExAC: 9:139399155 C / T
• gnomAD v2: 9-139399155-C-T
• gnomAD v3: 9-136504703-C-T
• gnomAD v4: 9-136504703-C-T
• MyVariant Identifiers: chr9:g.139399155C>T (hg19) ; chr9:g.136504703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504703C>T , CM000671.2:g.136504703C>T	GRCh38
NC_000009.11:g.139399155C>T , CM000671.1:g.139399155C>T	GRCh37
NC_000009.10:g.138518976C>T	NCBI36
NG_007458.1:g.46084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2795G>A
ENST00000651671.1:c.4988G>A MANE Select	ENSP00000498587.1:p.Arg1663Gln
ENST00000679595.1:c.4988G>A	ENSP00000506241.1:p.Arg1663Gln
ENST00000680133.1:c.4874G>A	ENSP00000505319.1:p.Arg1625Gln
ENST00000680218.1:c.4868G>A	ENSP00000505339.1:p.Arg1623Gln
ENST00000680668.1:c.4874G>A	ENSP00000506336.1:p.Arg1625Gln
ENST00000680778.1:c.2585G>A	ENSP00000506033.1:p.Arg862Gln
ENST00000680924.1:c.*2388G>A	ENSP00000506031.1:n.*2388G>A
ENST00000681135.1:c.*2597G>A	ENSP00000506636.1:n.*2597G>A
ENST00000681298.1:n.1801G>A
ENST00000681454.1:c.*4224G>A	ENSP00000505763.1:n.*4224G>A
ENST00000277541.6:c.4988G>A	ENSP00000277541.6:p.Arg1663Gln
ENST00000494783.1:n.143G>A
NM_017617.3:c.4988G>A	NP_060087.3:p.Arg1663Gln
XM_011518717.1:c.4289G>A	XP_011517019.1:p.Arg1430Gln
NM_017617.5:c.4988G>A MANE Select	NP_060087.3:p.Arg1663Gln
XM_011518717.2:c.4265G>A	XP_011517019.2:p.Arg1422Gln