Canonical Allele Identifier: CA467832715

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1134096
• ClinVar RCV Id: RCV001468903 ; RCV004038677
• dbSNP Id: rs1308437413
• gnomAD v2: 9-139399310-G-A
• gnomAD v3: 9-136504858-G-A
• gnomAD v4: 9-136504858-G-A
• COSMIC: COSM308597
• MyVariant Identifiers: chr9:g.139399310G>A (hg19) ; chr9:g.136504858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504858G>A , CM000671.2:g.136504858G>A	GRCh38
NC_000009.11:g.139399310G>A , CM000671.1:g.139399310G>A	GRCh37
NC_000009.10:g.138519131G>A	NCBI36
NG_007458.1:g.45929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2640C>T
ENST00000651671.1:c.4833C>T MANE Select	ENSP00000498587.1:p.His1611=
ENST00000679595.1:c.4833C>T	ENSP00000506241.1:p.His1611=
ENST00000680133.1:c.4719C>T	ENSP00000505319.1:p.His1573=
ENST00000680218.1:c.4713C>T	ENSP00000505339.1:p.His1571=
ENST00000680668.1:c.4719C>T	ENSP00000506336.1:p.His1573=
ENST00000680778.1:c.2430C>T	ENSP00000506033.1:p.His810=
ENST00000680924.1:c.*2233C>T	ENSP00000506031.1:n.*2233C>T
ENST00000681135.1:c.*2442C>T	ENSP00000506636.1:n.*2442C>T
ENST00000681298.1:n.1646C>T
ENST00000681454.1:c.*4069C>T	ENSP00000505763.1:n.*4069C>T
ENST00000277541.6:c.4833C>T	ENSP00000277541.6:p.His1611=
NM_017617.3:c.4833C>T	NP_060087.3:p.His1611=
XM_011518717.1:c.4134C>T	XP_011517019.1:p.His1378=
NM_017617.5:c.4833C>T MANE Select	NP_060087.3:p.His1611=
XM_011518717.2:c.4110C>T	XP_011517019.2:p.His1370=