Canonical Allele Identifier: CA467738240

Gene: NOTCH1

Linked Data

• dbSNP Id: rs369167693
• MyVariant Identifiers: chr9:g.139393423G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498971G>T , CM000671.2:g.136498971G>T	GRCh38
NC_000009.11:g.139393423G>T , CM000671.1:g.139393423G>T	GRCh37
NC_000009.10:g.138513244G>T	NCBI36
NG_007458.1:g.51816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6108C>A MANE Select	ENSP00000498587.1:p.Ala2036=
ENST00000679595.1:c.*1148C>A	ENSP00000506241.1:n.*1148C>A
ENST00000679969.1:n.2704C>A
ENST00000680003.1:n.2440C>A
ENST00000680133.1:c.5994C>A	ENSP00000505319.1:p.Ala1998=
ENST00000680218.1:c.5988C>A	ENSP00000505339.1:p.Ala1996=
ENST00000680668.1:c.5994C>A	ENSP00000506336.1:p.Ala1998=
ENST00000680778.1:c.3705C>A	ENSP00000506033.1:p.Ala1235=
ENST00000680924.1:c.*3508C>A	ENSP00000506031.1:n.*3508C>A
ENST00000681135.1:c.*3717C>A	ENSP00000506636.1:n.*3717C>A
ENST00000681298.1:n.4213C>A
ENST00000681454.1:c.*5344C>A	ENSP00000505763.1:n.*5344C>A
ENST00000277541.6:c.6108C>A	ENSP00000277541.6:p.Ala2036=
NM_017617.3:c.6108C>A	NP_060087.3:p.Ala2036=
XM_011518717.1:c.5409C>A	XP_011517019.1:p.Ala1803=
NM_017617.5:c.6108C>A MANE Select	NP_060087.3:p.Ala2036=
XM_011518717.2:c.5385C>A	XP_011517019.2:p.Ala1795=