Canonical Allele Identifier: CA201637576

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1083832
• ClinVar RCV Id: RCV001400650 ; RCV003399219
• dbSNP Id: rs920077656
• gnomAD v2: 9-139393396-A-G
• gnomAD v4: 9-136498944-A-G
• MyVariant Identifiers: chr9:g.139393396A>G (hg19) ; chr9:g.136498944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498944A>G , CM000671.2:g.136498944A>G	GRCh38
NC_000009.11:g.139393396A>G , CM000671.1:g.139393396A>G	GRCh37
NC_000009.10:g.138513217A>G	NCBI36
NG_007458.1:g.51843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6135T>C MANE Select	ENSP00000498587.1:p.Val2045=
ENST00000679595.1:c.*1175T>C	ENSP00000506241.1:n.*1175T>C
ENST00000679969.1:n.2731T>C
ENST00000680003.1:n.2467T>C
ENST00000680133.1:c.6021T>C	ENSP00000505319.1:p.Val2007=
ENST00000680218.1:c.6015T>C	ENSP00000505339.1:p.Val2005=
ENST00000680668.1:c.6021T>C	ENSP00000506336.1:p.Val2007=
ENST00000680778.1:c.3732T>C	ENSP00000506033.1:p.Val1244=
ENST00000680924.1:c.*3535T>C	ENSP00000506031.1:n.*3535T>C
ENST00000681135.1:c.*3744T>C	ENSP00000506636.1:n.*3744T>C
ENST00000681298.1:n.4240T>C
ENST00000681454.1:c.*5371T>C	ENSP00000505763.1:n.*5371T>C
ENST00000277541.6:c.6135T>C	ENSP00000277541.6:p.Val2045=
NM_017617.3:c.6135T>C	NP_060087.3:p.Val2045=
XM_011518717.1:c.5436T>C	XP_011517019.1:p.Val1812=
NM_017617.5:c.6135T>C MANE Select	NP_060087.3:p.Val2045=
XM_011518717.2:c.5412T>C	XP_011517019.2:p.Val1804=