Canonical Allele Identifier: CA349327

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 219376
• ClinVar RCV Id: RCV000205123
• dbSNP Id: rs864622057
• MyVariant Identifiers: chr9:g.139412300A>G (hg19) ; chr9:g.136517848A>G (hg38)
• PubMed: PMID:25963545

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517848A>G , CM000671.2:g.136517848A>G	GRCh38
NC_000009.11:g.139412300A>G , CM000671.1:g.139412300A>G	GRCh37
NC_000009.10:g.138532121A>G	NCBI36
NG_007458.1:g.32939T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000651671.1:c.1345T>C MANE Select	ENSP00000498587.1:p.Cys449Arg
ENST00000679595.1:c.1345T>C	ENSP00000506241.1:p.Cys449Arg
ENST00000680133.1:c.1345T>C	ENSP00000505319.1:p.Cys449Arg
ENST00000680218.1:c.1345T>C	ENSP00000505339.1:p.Cys449Arg
ENST00000680668.1:c.1345T>C	ENSP00000506336.1:p.Cys449Arg
ENST00000680924.1:c.1345T>C	ENSP00000506031.1:p.Cys449Arg
ENST00000681135.1:c.1345T>C	ENSP00000506636.1:p.Cys449Arg
ENST00000681454.1:c.*581T>C	ENSP00000505763.1:n.*581T>C
ENST00000277541.6:c.1345T>C	ENSP00000277541.6:p.Cys449Arg
NM_017617.3:c.1345T>C	NP_060087.3:p.Cys449Arg
XM_011518717.1:c.646T>C	XP_011517019.1:p.Cys216Arg
NM_017617.5:c.1345T>C MANE Select	NP_060087.3:p.Cys449Arg
XM_011518717.2:c.622T>C	XP_011517019.2:p.Cys208Arg