Canonical Allele Identifier: CA467737911

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321530
• MyVariant Identifiers: chr9:g.139393372G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498920G>A , CM000671.2:g.136498920G>A	GRCh38
NC_000009.11:g.139393372G>A , CM000671.1:g.139393372G>A	GRCh37
NC_000009.10:g.138513193G>A	NCBI36
NG_007458.1:g.51867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6159C>T MANE Select	ENSP00000498587.1:p.Asn2053=
ENST00000679595.1:c.*1199C>T	ENSP00000506241.1:n.*1199C>T
ENST00000679969.1:n.2755C>T
ENST00000680003.1:n.2491C>T
ENST00000680133.1:c.6045C>T	ENSP00000505319.1:p.Asn2015=
ENST00000680218.1:c.6039C>T	ENSP00000505339.1:p.Asn2013=
ENST00000680668.1:c.6045C>T	ENSP00000506336.1:p.Asn2015=
ENST00000680778.1:c.3756C>T	ENSP00000506033.1:p.Asn1252=
ENST00000680924.1:c.*3559C>T	ENSP00000506031.1:n.*3559C>T
ENST00000681135.1:c.*3768C>T	ENSP00000506636.1:n.*3768C>T
ENST00000681298.1:n.4264C>T
ENST00000681454.1:c.*5395C>T	ENSP00000505763.1:n.*5395C>T
ENST00000277541.6:c.6159C>T	ENSP00000277541.6:p.Asn2053=
NM_017617.3:c.6159C>T	NP_060087.3:p.Asn2053=
XM_011518717.1:c.5460C>T	XP_011517019.1:p.Asn1820=
NM_017617.5:c.6159C>T MANE Select	NP_060087.3:p.Asn2053=
XM_011518717.2:c.5436C>T	XP_011517019.2:p.Asn1812=