Canonical Allele Identifier: CA375644921

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1386097
• ClinVar RCV Id: RCV001889160
• dbSNP Id: rs2133336705
• gnomAD v4: 9-136504889-T-C
• MyVariant Identifiers: chr9:g.139399341T>C (hg19) ; chr9:g.136504889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504889T>C , CM000671.2:g.136504889T>C	GRCh38
NC_000009.11:g.139399341T>C , CM000671.1:g.139399341T>C	GRCh37
NC_000009.10:g.138519162T>C	NCBI36
NG_007458.1:g.45898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2609A>G
ENST00000651671.1:c.4802A>G MANE Select	ENSP00000498587.1:p.His1601Arg
ENST00000679595.1:c.4802A>G	ENSP00000506241.1:p.His1601Arg
ENST00000680133.1:c.4688A>G	ENSP00000505319.1:p.His1563Arg
ENST00000680218.1:c.4682A>G	ENSP00000505339.1:p.His1561Arg
ENST00000680668.1:c.4688A>G	ENSP00000506336.1:p.His1563Arg
ENST00000680778.1:c.2399A>G	ENSP00000506033.1:p.His800Arg
ENST00000680924.1:c.*2202A>G	ENSP00000506031.1:n.*2202A>G
ENST00000681135.1:c.*2411A>G	ENSP00000506636.1:n.*2411A>G
ENST00000681298.1:n.1615A>G
ENST00000681454.1:c.*4038A>G	ENSP00000505763.1:n.*4038A>G
ENST00000277541.6:c.4802A>G	ENSP00000277541.6:p.His1601Arg
NM_017617.3:c.4802A>G	NP_060087.3:p.His1601Arg
XM_011518717.1:c.4103A>G	XP_011517019.1:p.His1368Arg
NM_017617.5:c.4802A>G MANE Select	NP_060087.3:p.His1601Arg
XM_011518717.2:c.4079A>G	XP_011517019.2:p.His1360Arg