Canonical Allele Identifier: CA348264

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 219375
• ClinVar RCV Id: RCV000203986
• dbSNP Id: rs864622056
• MyVariant Identifiers: chr9:g.139412302C>T (hg19) ; chr9:g.136517850C>T (hg38)
• PubMed: PMID:25963545 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517850C>T , CM000671.2:g.136517850C>T	GRCh38
NC_000009.11:g.139412302C>T , CM000671.1:g.139412302C>T	GRCh37
NC_000009.10:g.138532123C>T	NCBI36
NG_007458.1:g.32937G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651671.1:c.1343G>A MANE Select	ENSP00000498587.1:p.Arg448Gln
ENST00000679595.1:c.1343G>A	ENSP00000506241.1:p.Arg448Gln
ENST00000680133.1:c.1343G>A	ENSP00000505319.1:p.Arg448Gln
ENST00000680218.1:c.1343G>A	ENSP00000505339.1:p.Arg448Gln
ENST00000680668.1:c.1343G>A	ENSP00000506336.1:p.Arg448Gln
ENST00000680924.1:c.1343G>A	ENSP00000506031.1:p.Arg448Gln
ENST00000681135.1:c.1343G>A	ENSP00000506636.1:p.Arg448Gln
ENST00000681454.1:c.*579G>A	ENSP00000505763.1:n.*579G>A
ENST00000277541.6:c.1343G>A	ENSP00000277541.6:p.Arg448Gln
NM_017617.3:c.1343G>A	NP_060087.3:p.Arg448Gln
XM_011518717.1:c.644G>A	XP_011517019.1:p.Arg215Gln
NM_017617.5:c.1343G>A MANE Select	NP_060087.3:p.Arg448Gln
XM_011518717.2:c.620G>A	XP_011517019.2:p.Arg207Gln