Canonical Allele Identifier: CA16612810

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 409045
• ClinVar RCV Id: RCV000472324 ; RCV001798837 ; RCV002270496 ; RCV001726177
• dbSNP Id: rs1060502236
• gnomAD v2: 9-139391614-T-C
• gnomAD v3: 9-136497162-T-C
• gnomAD v4: 9-136497162-T-C
• COSMIC: COSM5701001 ; COSM5701002
• MyVariant Identifiers: chr9:g.139391614T>C (hg19) ; chr9:g.136497162T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497162T>C , CM000671.2:g.136497162T>C	GRCh38
NC_000009.11:g.139391614T>C , CM000671.1:g.139391614T>C	GRCh37
NC_000009.10:g.138511435T>C	NCBI36
NG_007458.1:g.53625A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6577A>G MANE Select	ENSP00000498587.1:p.Ser2193Gly
ENST00000679595.1:c.*1617A>G	ENSP00000506241.1:n.*1617A>G
ENST00000679969.1:n.3173A>G
ENST00000680003.1:n.2909A>G
ENST00000680133.1:c.6463A>G	ENSP00000505319.1:p.Ser2155Gly
ENST00000680218.1:c.6457A>G	ENSP00000505339.1:p.Ser2153Gly
ENST00000680668.1:c.6463A>G	ENSP00000506336.1:p.Ser2155Gly
ENST00000680778.1:c.4174A>G	ENSP00000506033.1:p.Ser1392Gly
ENST00000680924.1:c.*3977A>G	ENSP00000506031.1:n.*3977A>G
ENST00000681135.1:c.*4186A>G	ENSP00000506636.1:n.*4186A>G
ENST00000681298.1:n.4682A>G
ENST00000681454.1:c.*5813A>G	ENSP00000505763.1:n.*5813A>G
ENST00000277541.6:c.6577A>G	ENSP00000277541.6:p.Ser2193Gly
NM_017617.3:c.6577A>G	NP_060087.3:p.Ser2193Gly
XM_011518717.1:c.5878A>G	XP_011517019.1:p.Ser1960Gly
NM_017617.5:c.6577A>G MANE Select	NP_060087.3:p.Ser2193Gly
XM_011518717.2:c.5854A>G	XP_011517019.2:p.Ser1952Gly