Canonical Allele Identifier: CA375631380

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318125
• MyVariant Identifiers: chr9:g.139391661T>C (hg19) ; chr9:g.136497209T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497209T>C , CM000671.2:g.136497209T>C	GRCh38
NC_000009.11:g.139391661T>C , CM000671.1:g.139391661T>C	GRCh37
NC_000009.10:g.138511482T>C	NCBI36
NG_007458.1:g.53578A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6530A>G MANE Select	ENSP00000498587.1:p.Lys2177Arg
ENST00000679595.1:c.*1570A>G	ENSP00000506241.1:n.*1570A>G
ENST00000679969.1:n.3126A>G
ENST00000680003.1:n.2862A>G
ENST00000680133.1:c.6416A>G	ENSP00000505319.1:p.Lys2139Arg
ENST00000680218.1:c.6410A>G	ENSP00000505339.1:p.Lys2137Arg
ENST00000680668.1:c.6416A>G	ENSP00000506336.1:p.Lys2139Arg
ENST00000680778.1:c.4127A>G	ENSP00000506033.1:p.Lys1376Arg
ENST00000680924.1:c.*3930A>G	ENSP00000506031.1:n.*3930A>G
ENST00000681135.1:c.*4139A>G	ENSP00000506636.1:n.*4139A>G
ENST00000681298.1:n.4635A>G
ENST00000681454.1:c.*5766A>G	ENSP00000505763.1:n.*5766A>G
ENST00000277541.6:c.6530A>G	ENSP00000277541.6:p.Lys2177Arg
NM_017617.3:c.6530A>G	NP_060087.3:p.Lys2177Arg
XM_011518717.1:c.5831A>G	XP_011517019.1:p.Lys1944Arg
NM_017617.5:c.6530A>G MANE Select	NP_060087.3:p.Lys2177Arg
XM_011518717.2:c.5807A>G	XP_011517019.2:p.Lys1936Arg