Canonical Allele Identifier: CA375631738

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318616
• MyVariant Identifiers: chr9:g.139391757T>C (hg19) ; chr9:g.136497305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497305T>C , CM000671.2:g.136497305T>C	GRCh38
NC_000009.11:g.139391757T>C , CM000671.1:g.139391757T>C	GRCh37
NC_000009.10:g.138511578T>C	NCBI36
NG_007458.1:g.53482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6434A>G MANE Select	ENSP00000498587.1:p.Tyr2145Cys
ENST00000679595.1:c.*1474A>G	ENSP00000506241.1:n.*1474A>G
ENST00000679969.1:n.3030A>G
ENST00000680003.1:n.2766A>G
ENST00000680133.1:c.6320A>G	ENSP00000505319.1:p.Tyr2107Cys
ENST00000680218.1:c.6314A>G	ENSP00000505339.1:p.Tyr2105Cys
ENST00000680668.1:c.6320A>G	ENSP00000506336.1:p.Tyr2107Cys
ENST00000680778.1:c.4031A>G	ENSP00000506033.1:p.Tyr1344Cys
ENST00000680924.1:c.*3834A>G	ENSP00000506031.1:n.*3834A>G
ENST00000681135.1:c.*4043A>G	ENSP00000506636.1:n.*4043A>G
ENST00000681298.1:n.4539A>G
ENST00000681454.1:c.*5670A>G	ENSP00000505763.1:n.*5670A>G
ENST00000277541.6:c.6434A>G	ENSP00000277541.6:p.Tyr2145Cys
NM_017617.3:c.6434A>G	NP_060087.3:p.Tyr2145Cys
XM_011518717.1:c.5735A>G	XP_011517019.1:p.Tyr1912Cys
NM_017617.5:c.6434A>G MANE Select	NP_060087.3:p.Tyr2145Cys
XM_011518717.2:c.5711A>G	XP_011517019.2:p.Tyr1904Cys