Canonical Allele Identifier: CA161209

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 134941
• ClinVar RCV Id: RCV000121691 ; RCV000806389
• dbSNP Id: rs372830543
• ExAC: 9:139399128 C / T
• gnomAD v2: 9-139399128-C-T
• gnomAD v3: 9-136504676-C-T
• gnomAD v4: 9-136504676-C-T
• COSMIC: COSM308623
• MyVariant Identifiers: chr9:g.139399128C>T (hg19) ; chr9:g.136504676C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504676C>T , CM000671.2:g.136504676C>T	GRCh38
NC_000009.11:g.139399128C>T , CM000671.1:g.139399128C>T	GRCh37
NC_000009.10:g.138518949C>T	NCBI36
NG_007458.1:g.46111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2822G>A
ENST00000651671.1:c.5015G>A MANE Select	ENSP00000498587.1:p.Arg1672His
ENST00000679595.1:c.5015G>A	ENSP00000506241.1:p.Arg1672His
ENST00000680133.1:c.4901G>A	ENSP00000505319.1:p.Arg1634His
ENST00000680218.1:c.4895G>A	ENSP00000505339.1:p.Arg1632His
ENST00000680668.1:c.4901G>A	ENSP00000506336.1:p.Arg1634His
ENST00000680778.1:c.2612G>A	ENSP00000506033.1:p.Arg871His
ENST00000680924.1:c.*2415G>A	ENSP00000506031.1:n.*2415G>A
ENST00000681135.1:c.*2624G>A	ENSP00000506636.1:n.*2624G>A
ENST00000681298.1:n.1828G>A
ENST00000681454.1:c.*4251G>A	ENSP00000505763.1:n.*4251G>A
ENST00000277541.6:c.5015G>A	ENSP00000277541.6:p.Arg1672His
ENST00000494783.1:n.170G>A
NM_017617.3:c.5015G>A	NP_060087.3:p.Arg1672His
XM_011518717.1:c.4316G>A	XP_011517019.1:p.Arg1439His
NM_017617.5:c.5015G>A MANE Select	NP_060087.3:p.Arg1672His
XM_011518717.2:c.4292G>A	XP_011517019.2:p.Arg1431His