Canonical Allele Identifier: CA10602398

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 221999
• ClinVar RCV Id: RCV000408653
• dbSNP Id: rs774966208
• MyVariant Identifiers: chr9:g.139417466C>T (hg19) ; chr9:g.136523014C>T (hg38)
• PubMed: PMID:19597493 ; PMID:27760138

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136523014C>T , CM000671.2:g.136523014C>T	GRCh38
NC_000009.11:g.139417466C>T , CM000671.1:g.139417466C>T	GRCh37
NC_000009.10:g.138537287C>T	NCBI36
NG_007458.1:g.27773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491649.2:n.357G>A
ENST00000651671.1:c.578G>A MANE Select	ENSP00000498587.1:p.Gly193Asp
ENST00000679595.1:c.578G>A	ENSP00000506241.1:p.Gly193Asp
ENST00000680133.1:c.578G>A	ENSP00000505319.1:p.Gly193Asp
ENST00000680218.1:c.578G>A	ENSP00000505339.1:p.Gly193Asp
ENST00000680668.1:c.578G>A	ENSP00000506336.1:p.Gly193Asp
ENST00000680924.1:c.578G>A	ENSP00000506031.1:p.Gly193Asp
ENST00000681135.1:c.578G>A	ENSP00000506636.1:p.Gly193Asp
ENST00000681454.1:c.141-3449G>A	ENSP00000505763.1:n.141-3449G>A
ENST00000277541.6:c.578G>A	ENSP00000277541.6:p.Gly193Asp
ENST00000491649.1:n.357G>A
NM_017617.3:c.578G>A	NP_060087.3:p.Gly193Asp
XM_011518717.1:c.44-3449G>A	XP_011517019.1:n.44-3449G>A
NM_017617.5:c.578G>A MANE Select	NP_060087.3:p.Gly193Asp
XM_011518717.2:c.20-3449G>A	XP_011517019.2:n.20-3449G>A