Canonical Allele Identifier: CA375634074

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321853
• MyVariant Identifiers: chr9:g.139393429C>A (hg19) ; chr9:g.136498977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498977C>A , CM000671.2:g.136498977C>A	GRCh38
NC_000009.11:g.139393429C>A , CM000671.1:g.139393429C>A	GRCh37
NC_000009.10:g.138513250C>A	NCBI36
NG_007458.1:g.51810G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6102G>T MANE Select	ENSP00000498587.1:p.Trp2034Cys
ENST00000679595.1:c.*1142G>T	ENSP00000506241.1:n.*1142G>T
ENST00000679969.1:n.2698G>T
ENST00000680003.1:n.2434G>T
ENST00000680133.1:c.5988G>T	ENSP00000505319.1:p.Trp1996Cys
ENST00000680218.1:c.5982G>T	ENSP00000505339.1:p.Trp1994Cys
ENST00000680668.1:c.5988G>T	ENSP00000506336.1:p.Trp1996Cys
ENST00000680778.1:c.3699G>T	ENSP00000506033.1:p.Trp1233Cys
ENST00000680924.1:c.*3502G>T	ENSP00000506031.1:n.*3502G>T
ENST00000681135.1:c.*3711G>T	ENSP00000506636.1:n.*3711G>T
ENST00000681298.1:n.4207G>T
ENST00000681454.1:c.*5338G>T	ENSP00000505763.1:n.*5338G>T
ENST00000277541.6:c.6102G>T	ENSP00000277541.6:p.Trp2034Cys
NM_017617.3:c.6102G>T	NP_060087.3:p.Trp2034Cys
XM_011518717.1:c.5403G>T	XP_011517019.1:p.Trp1801Cys
NM_017617.5:c.6102G>T MANE Select	NP_060087.3:p.Trp2034Cys
XM_011518717.2:c.5379G>T	XP_011517019.2:p.Trp1793Cys