Canonical Allele Identifier: CA375631215

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317944
• MyVariant Identifiers: chr9:g.139391620G>C (hg19) ; chr9:g.136497168G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497168G>C , CM000671.2:g.136497168G>C	GRCh38
NC_000009.11:g.139391620G>C , CM000671.1:g.139391620G>C	GRCh37
NC_000009.10:g.138511441G>C	NCBI36
NG_007458.1:g.53619C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6571C>G MANE Select	ENSP00000498587.1:p.Leu2191Val
ENST00000679595.1:c.*1611C>G	ENSP00000506241.1:n.*1611C>G
ENST00000679969.1:n.3167C>G
ENST00000680003.1:n.2903C>G
ENST00000680133.1:c.6457C>G	ENSP00000505319.1:p.Leu2153Val
ENST00000680218.1:c.6451C>G	ENSP00000505339.1:p.Leu2151Val
ENST00000680668.1:c.6457C>G	ENSP00000506336.1:p.Leu2153Val
ENST00000680778.1:c.4168C>G	ENSP00000506033.1:p.Leu1390Val
ENST00000680924.1:c.*3971C>G	ENSP00000506031.1:n.*3971C>G
ENST00000681135.1:c.*4180C>G	ENSP00000506636.1:n.*4180C>G
ENST00000681298.1:n.4676C>G
ENST00000681454.1:c.*5807C>G	ENSP00000505763.1:n.*5807C>G
ENST00000277541.6:c.6571C>G	ENSP00000277541.6:p.Leu2191Val
NM_017617.3:c.6571C>G	NP_060087.3:p.Leu2191Val
XM_011518717.1:c.5872C>G	XP_011517019.1:p.Leu1958Val
NM_017617.5:c.6571C>G MANE Select	NP_060087.3:p.Leu2191Val
XM_011518717.2:c.5848C>G	XP_011517019.2:p.Leu1950Val