Canonical Allele Identifier: CA375631732

Gene: NOTCH1

Linked Data

• dbSNP Id: rs770803054
• COSMIC: COSM5881369
• MyVariant Identifiers: chr9:g.139391756G>C (hg19) ; chr9:g.136497304G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497304G>C , CM000671.2:g.136497304G>C	GRCh38
NC_000009.11:g.139391756G>C , CM000671.1:g.139391756G>C	GRCh37
NC_000009.10:g.138511577G>C	NCBI36
NG_007458.1:g.53483C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6435C>G MANE Select	ENSP00000498587.1:p.Tyr2145Ter
ENST00000679595.1:c.*1475C>G	ENSP00000506241.1:n.*1475C>G
ENST00000679969.1:n.3031C>G
ENST00000680003.1:n.2767C>G
ENST00000680133.1:c.6321C>G	ENSP00000505319.1:p.Tyr2107Ter
ENST00000680218.1:c.6315C>G	ENSP00000505339.1:p.Tyr2105Ter
ENST00000680668.1:c.6321C>G	ENSP00000506336.1:p.Tyr2107Ter
ENST00000680778.1:c.4032C>G	ENSP00000506033.1:p.Tyr1344Ter
ENST00000680924.1:c.*3835C>G	ENSP00000506031.1:n.*3835C>G
ENST00000681135.1:c.*4044C>G	ENSP00000506636.1:n.*4044C>G
ENST00000681298.1:n.4540C>G
ENST00000681454.1:c.*5671C>G	ENSP00000505763.1:n.*5671C>G
ENST00000277541.6:c.6435C>G	ENSP00000277541.6:p.Tyr2145Ter
NM_017617.3:c.6435C>G	NP_060087.3:p.Tyr2145Ter
XM_011518717.1:c.5736C>G	XP_011517019.1:p.Tyr1912Ter
NM_017617.5:c.6435C>G MANE Select	NP_060087.3:p.Tyr2145Ter
XM_011518717.2:c.5712C>G	XP_011517019.2:p.Tyr1904Ter