Canonical Allele Identifier: CA375631859

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1374634055
• MyVariant Identifiers: chr9:g.139391805A>G (hg19) ; chr9:g.136497353A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497353A>G , CM000671.2:g.136497353A>G	GRCh38
NC_000009.11:g.139391805A>G , CM000671.1:g.139391805A>G	GRCh37
NC_000009.10:g.138511626A>G	NCBI36
NG_007458.1:g.53434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6386T>C MANE Select	ENSP00000498587.1:p.Leu2129Pro
ENST00000679595.1:c.*1426T>C	ENSP00000506241.1:n.*1426T>C
ENST00000679969.1:n.2982T>C
ENST00000680003.1:n.2718T>C
ENST00000680133.1:c.6272T>C	ENSP00000505319.1:p.Leu2091Pro
ENST00000680218.1:c.6266T>C	ENSP00000505339.1:p.Leu2089Pro
ENST00000680668.1:c.6272T>C	ENSP00000506336.1:p.Leu2091Pro
ENST00000680778.1:c.3983T>C	ENSP00000506033.1:p.Leu1328Pro
ENST00000680924.1:c.*3786T>C	ENSP00000506031.1:n.*3786T>C
ENST00000681135.1:c.*3995T>C	ENSP00000506636.1:n.*3995T>C
ENST00000681298.1:n.4491T>C
ENST00000681454.1:c.*5622T>C	ENSP00000505763.1:n.*5622T>C
ENST00000277541.6:c.6386T>C	ENSP00000277541.6:p.Leu2129Pro
NM_017617.3:c.6386T>C	NP_060087.3:p.Leu2129Pro
XM_011518717.1:c.5687T>C	XP_011517019.1:p.Leu1896Pro
NM_017617.5:c.6386T>C MANE Select	NP_060087.3:p.Leu2129Pro
XM_011518717.2:c.5663T>C	XP_011517019.2:p.Leu1888Pro