Canonical Allele Identifier: CA2721107667

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322364

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499085A>T , CM000671.2:g.136499085A>T	GRCh38
NC_000009.11:g.139393537A>T , CM000671.1:g.139393537A>T	GRCh37
NC_000009.10:g.138513358A>T	NCBI36
NG_007458.1:g.51702T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6082+27T>A MANE Select	ENSP00000498587.1:n.6082+27T>A
ENST00000679595.1:c.*1122+27T>A	ENSP00000506241.1:n.*1122+27T>A
ENST00000679969.1:n.2590T>A
ENST00000680003.1:n.2414+27T>A
ENST00000680133.1:c.5968+27T>A	ENSP00000505319.1:n.5968+27T>A
ENST00000680218.1:c.5962+27T>A	ENSP00000505339.1:n.5962+27T>A
ENST00000680668.1:c.5968+27T>A	ENSP00000506336.1:n.5968+27T>A
ENST00000680778.1:c.3679+27T>A	ENSP00000506033.1:n.3679+27T>A
ENST00000680924.1:c.*3482+27T>A	ENSP00000506031.1:n.*3482+27T>A
ENST00000681135.1:c.*3691+27T>A	ENSP00000506636.1:n.*3691+27T>A
ENST00000681298.1:n.4187+27T>A
ENST00000681454.1:c.*5318+27T>A	ENSP00000505763.1:n.*5318+27T>A
ENST00000277541.6:c.6082+27T>A	ENSP00000277541.6:n.6082+27T>A
NM_017617.3:c.6082+27T>A	NP_060087.3:n.6082+27T>A
XM_011518717.1:c.5383+27T>A	XP_011517019.1:n.5383+27T>A
NM_017617.5:c.6082+27T>A MANE Select	NP_060087.3:n.6082+27T>A
XM_011518717.2:c.5359+27T>A	XP_011517019.2:n.5359+27T>A