Canonical Allele Identifier: CA375631233

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317962
• MyVariant Identifiers: chr9:g.139391625C>A (hg19) ; chr9:g.136497173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497173C>A , CM000671.2:g.136497173C>A	GRCh38
NC_000009.11:g.139391625C>A , CM000671.1:g.139391625C>A	GRCh37
NC_000009.10:g.138511446C>A	NCBI36
NG_007458.1:g.53614G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6566G>T MANE Select	ENSP00000498587.1:p.Cys2189Phe
ENST00000679595.1:c.*1606G>T	ENSP00000506241.1:n.*1606G>T
ENST00000679969.1:n.3162G>T
ENST00000680003.1:n.2898G>T
ENST00000680133.1:c.6452G>T	ENSP00000505319.1:p.Cys2151Phe
ENST00000680218.1:c.6446G>T	ENSP00000505339.1:p.Cys2149Phe
ENST00000680668.1:c.6452G>T	ENSP00000506336.1:p.Cys2151Phe
ENST00000680778.1:c.4163G>T	ENSP00000506033.1:p.Cys1388Phe
ENST00000680924.1:c.*3966G>T	ENSP00000506031.1:n.*3966G>T
ENST00000681135.1:c.*4175G>T	ENSP00000506636.1:n.*4175G>T
ENST00000681298.1:n.4671G>T
ENST00000681454.1:c.*5802G>T	ENSP00000505763.1:n.*5802G>T
ENST00000277541.6:c.6566G>T	ENSP00000277541.6:p.Cys2189Phe
NM_017617.3:c.6566G>T	NP_060087.3:p.Cys2189Phe
XM_011518717.1:c.5867G>T	XP_011517019.1:p.Cys1956Phe
NM_017617.5:c.6566G>T MANE Select	NP_060087.3:p.Cys2189Phe
XM_011518717.2:c.5843G>T	XP_011517019.2:p.Cys1948Phe