Canonical Allele Identifier: CA467832449

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318304
• MyVariant Identifiers: chr9:g.139391702G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497250G>A , CM000671.2:g.136497250G>A	GRCh38
NC_000009.11:g.139391702G>A , CM000671.1:g.139391702G>A	GRCh37
NC_000009.10:g.138511523G>A	NCBI36
NG_007458.1:g.53537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6489C>T MANE Select	ENSP00000498587.1:p.Ser2163=
ENST00000679595.1:c.*1529C>T	ENSP00000506241.1:n.*1529C>T
ENST00000679969.1:n.3085C>T
ENST00000680003.1:n.2821C>T
ENST00000680133.1:c.6375C>T	ENSP00000505319.1:p.Ser2125=
ENST00000680218.1:c.6369C>T	ENSP00000505339.1:p.Ser2123=
ENST00000680668.1:c.6375C>T	ENSP00000506336.1:p.Ser2125=
ENST00000680778.1:c.4086C>T	ENSP00000506033.1:p.Ser1362=
ENST00000680924.1:c.*3889C>T	ENSP00000506031.1:n.*3889C>T
ENST00000681135.1:c.*4098C>T	ENSP00000506636.1:n.*4098C>T
ENST00000681298.1:n.4594C>T
ENST00000681454.1:c.*5725C>T	ENSP00000505763.1:n.*5725C>T
ENST00000277541.6:c.6489C>T	ENSP00000277541.6:p.Ser2163=
NM_017617.3:c.6489C>T	NP_060087.3:p.Ser2163=
XM_011518717.1:c.5790C>T	XP_011517019.1:p.Ser1930=
NM_017617.5:c.6489C>T MANE Select	NP_060087.3:p.Ser2163=
XM_011518717.2:c.5766C>T	XP_011517019.2:p.Ser1922=