Canonical Allele Identifier: CA467832293

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318039
• COSMIC: COSM3215844 ; COSM3215845
• MyVariant Identifiers: chr9:g.139391642G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497190G>T , CM000671.2:g.136497190G>T	GRCh38
NC_000009.11:g.139391642G>T , CM000671.1:g.139391642G>T	GRCh37
NC_000009.10:g.138511463G>T	NCBI36
NG_007458.1:g.53597C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6549C>A MANE Select	ENSP00000498587.1:p.Ser2183=
ENST00000679595.1:c.*1589C>A	ENSP00000506241.1:n.*1589C>A
ENST00000679969.1:n.3145C>A
ENST00000680003.1:n.2881C>A
ENST00000680133.1:c.6435C>A	ENSP00000505319.1:p.Ser2145=
ENST00000680218.1:c.6429C>A	ENSP00000505339.1:p.Ser2143=
ENST00000680668.1:c.6435C>A	ENSP00000506336.1:p.Ser2145=
ENST00000680778.1:c.4146C>A	ENSP00000506033.1:p.Ser1382=
ENST00000680924.1:c.*3949C>A	ENSP00000506031.1:n.*3949C>A
ENST00000681135.1:c.*4158C>A	ENSP00000506636.1:n.*4158C>A
ENST00000681298.1:n.4654C>A
ENST00000681454.1:c.*5785C>A	ENSP00000505763.1:n.*5785C>A
ENST00000277541.6:c.6549C>A	ENSP00000277541.6:p.Ser2183=
NM_017617.3:c.6549C>A	NP_060087.3:p.Ser2183=
XM_011518717.1:c.5850C>A	XP_011517019.1:p.Ser1950=
NM_017617.5:c.6549C>A MANE Select	NP_060087.3:p.Ser2183=
XM_011518717.2:c.5826C>A	XP_011517019.2:p.Ser1942=