Canonical Allele Identifier: CA375631329

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318065
• MyVariant Identifiers: chr9:g.139391647T>C (hg19) ; chr9:g.136497195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497195T>C , CM000671.2:g.136497195T>C	GRCh38
NC_000009.11:g.139391647T>C , CM000671.1:g.139391647T>C	GRCh37
NC_000009.10:g.138511468T>C	NCBI36
NG_007458.1:g.53592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6544A>G MANE Select	ENSP00000498587.1:p.Lys2182Glu
ENST00000679595.1:c.*1584A>G	ENSP00000506241.1:n.*1584A>G
ENST00000679969.1:n.3140A>G
ENST00000680003.1:n.2876A>G
ENST00000680133.1:c.6430A>G	ENSP00000505319.1:p.Lys2144Glu
ENST00000680218.1:c.6424A>G	ENSP00000505339.1:p.Lys2142Glu
ENST00000680668.1:c.6430A>G	ENSP00000506336.1:p.Lys2144Glu
ENST00000680778.1:c.4141A>G	ENSP00000506033.1:p.Lys1381Glu
ENST00000680924.1:c.*3944A>G	ENSP00000506031.1:n.*3944A>G
ENST00000681135.1:c.*4153A>G	ENSP00000506636.1:n.*4153A>G
ENST00000681298.1:n.4649A>G
ENST00000681454.1:c.*5780A>G	ENSP00000505763.1:n.*5780A>G
ENST00000277541.6:c.6544A>G	ENSP00000277541.6:p.Lys2182Glu
NM_017617.3:c.6544A>G	NP_060087.3:p.Lys2182Glu
XM_011518717.1:c.5845A>G	XP_011517019.1:p.Lys1949Glu
NM_017617.5:c.6544A>G MANE Select	NP_060087.3:p.Lys2182Glu
XM_011518717.2:c.5821A>G	XP_011517019.2:p.Lys1941Glu