Canonical Allele Identifier: CA5339906

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1753445
• ClinVar RCV Id: RCV002361688 ; RCV003776255
• dbSNP Id: rs557375925
• ExAC: 9:139391768 C / A
• gnomAD v2: 9-139391768-C-A
• gnomAD v3: 9-136497316-C-A
• gnomAD v4: 9-136497316-C-A
• MyVariant Identifiers: chr9:g.139391768C>A (hg19) ; chr9:g.136497316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497316C>A , CM000671.2:g.136497316C>A	GRCh38
NC_000009.11:g.139391768C>A , CM000671.1:g.139391768C>A	GRCh37
NC_000009.10:g.138511589C>A	NCBI36
NG_007458.1:g.53471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6423G>T MANE Select	ENSP00000498587.1:p.Ser2141=
ENST00000679595.1:c.*1463G>T	ENSP00000506241.1:n.*1463G>T
ENST00000679969.1:n.3019G>T
ENST00000680003.1:n.2755G>T
ENST00000680133.1:c.6309G>T	ENSP00000505319.1:p.Ser2103=
ENST00000680218.1:c.6303G>T	ENSP00000505339.1:p.Ser2101=
ENST00000680668.1:c.6309G>T	ENSP00000506336.1:p.Ser2103=
ENST00000680778.1:c.4020G>T	ENSP00000506033.1:p.Ser1340=
ENST00000680924.1:c.*3823G>T	ENSP00000506031.1:n.*3823G>T
ENST00000681135.1:c.*4032G>T	ENSP00000506636.1:n.*4032G>T
ENST00000681298.1:n.4528G>T
ENST00000681454.1:c.*5659G>T	ENSP00000505763.1:n.*5659G>T
ENST00000277541.6:c.6423G>T	ENSP00000277541.6:p.Ser2141=
NM_017617.3:c.6423G>T	NP_060087.3:p.Ser2141=
XM_011518717.1:c.5724G>T	XP_011517019.1:p.Ser1908=
NM_017617.5:c.6423G>T MANE Select	NP_060087.3:p.Ser2141=
XM_011518717.2:c.5700G>T	XP_011517019.2:p.Ser1900=