Canonical Allele Identifier: CA375634089

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1554826698
• MyVariant Identifiers: chr9:g.139393431A>T (hg19) ; chr9:g.136498979A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498979A>T , CM000671.2:g.136498979A>T	GRCh38
NC_000009.11:g.139393431A>T , CM000671.1:g.139393431A>T	GRCh37
NC_000009.10:g.138513252A>T	NCBI36
NG_007458.1:g.51808T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6100T>A MANE Select	ENSP00000498587.1:p.Trp2034Arg
ENST00000679595.1:c.*1140T>A	ENSP00000506241.1:n.*1140T>A
ENST00000679969.1:n.2696T>A
ENST00000680003.1:n.2432T>A
ENST00000680133.1:c.5986T>A	ENSP00000505319.1:p.Trp1996Arg
ENST00000680218.1:c.5980T>A	ENSP00000505339.1:p.Trp1994Arg
ENST00000680668.1:c.5986T>A	ENSP00000506336.1:p.Trp1996Arg
ENST00000680778.1:c.3697T>A	ENSP00000506033.1:p.Trp1233Arg
ENST00000680924.1:c.*3500T>A	ENSP00000506031.1:n.*3500T>A
ENST00000681135.1:c.*3709T>A	ENSP00000506636.1:n.*3709T>A
ENST00000681298.1:n.4205T>A
ENST00000681454.1:c.*5336T>A	ENSP00000505763.1:n.*5336T>A
ENST00000277541.6:c.6100T>A	ENSP00000277541.6:p.Trp2034Arg
NM_017617.3:c.6100T>A	NP_060087.3:p.Trp2034Arg
XM_011518717.1:c.5401T>A	XP_011517019.1:p.Trp1801Arg
NM_017617.5:c.6100T>A MANE Select	NP_060087.3:p.Trp2034Arg
XM_011518717.2:c.5377T>A	XP_011517019.2:p.Trp1793Arg