Canonical Allele Identifier: CA375643980

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335675
• MyVariant Identifiers: chr9:g.139399137A>C (hg19) ; chr9:g.136504685A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504685A>C , CM000671.2:g.136504685A>C	GRCh38
NC_000009.11:g.139399137A>C , CM000671.1:g.139399137A>C	GRCh37
NC_000009.10:g.138518958A>C	NCBI36
NG_007458.1:g.46102T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2813T>G
ENST00000651671.1:c.5006T>G MANE Select	ENSP00000498587.1:p.Met1669Arg
ENST00000679595.1:c.5006T>G	ENSP00000506241.1:p.Met1669Arg
ENST00000680133.1:c.4892T>G	ENSP00000505319.1:p.Met1631Arg
ENST00000680218.1:c.4886T>G	ENSP00000505339.1:p.Met1629Arg
ENST00000680668.1:c.4892T>G	ENSP00000506336.1:p.Met1631Arg
ENST00000680778.1:c.2603T>G	ENSP00000506033.1:p.Met868Arg
ENST00000680924.1:c.*2406T>G	ENSP00000506031.1:n.*2406T>G
ENST00000681135.1:c.*2615T>G	ENSP00000506636.1:n.*2615T>G
ENST00000681298.1:n.1819T>G
ENST00000681454.1:c.*4242T>G	ENSP00000505763.1:n.*4242T>G
ENST00000277541.6:c.5006T>G	ENSP00000277541.6:p.Met1669Arg
ENST00000494783.1:n.161T>G
NM_017617.3:c.5006T>G	NP_060087.3:p.Met1669Arg
XM_011518717.1:c.4307T>G	XP_011517019.1:p.Met1436Arg
NM_017617.5:c.5006T>G MANE Select	NP_060087.3:p.Met1669Arg
XM_011518717.2:c.4283T>G	XP_011517019.2:p.Met1428Arg