Canonical Allele Identifier: CA375633972

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321729
• MyVariant Identifiers: chr9:g.139393405A>C (hg19) ; chr9:g.136498953A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498953A>C , CM000671.2:g.136498953A>C	GRCh38
NC_000009.11:g.139393405A>C , CM000671.1:g.139393405A>C	GRCh37
NC_000009.10:g.138513226A>C	NCBI36
NG_007458.1:g.51834T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6126T>G MANE Select	ENSP00000498587.1:p.Asp2042Glu
ENST00000679595.1:c.*1166T>G	ENSP00000506241.1:n.*1166T>G
ENST00000679969.1:n.2722T>G
ENST00000680003.1:n.2458T>G
ENST00000680133.1:c.6012T>G	ENSP00000505319.1:p.Asp2004Glu
ENST00000680218.1:c.6006T>G	ENSP00000505339.1:p.Asp2002Glu
ENST00000680668.1:c.6012T>G	ENSP00000506336.1:p.Asp2004Glu
ENST00000680778.1:c.3723T>G	ENSP00000506033.1:p.Asp1241Glu
ENST00000680924.1:c.*3526T>G	ENSP00000506031.1:n.*3526T>G
ENST00000681135.1:c.*3735T>G	ENSP00000506636.1:n.*3735T>G
ENST00000681298.1:n.4231T>G
ENST00000681454.1:c.*5362T>G	ENSP00000505763.1:n.*5362T>G
ENST00000277541.6:c.6126T>G	ENSP00000277541.6:p.Asp2042Glu
NM_017617.3:c.6126T>G	NP_060087.3:p.Asp2042Glu
XM_011518717.1:c.5427T>G	XP_011517019.1:p.Asp1809Glu
NM_017617.5:c.6126T>G MANE Select	NP_060087.3:p.Asp2042Glu
XM_011518717.2:c.5403T>G	XP_011517019.2:p.Asp1801Glu