Canonical Allele Identifier: CA375631463

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391683T>A (hg19) ; chr9:g.136497231T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497231T>A , CM000671.2:g.136497231T>A	GRCh38
NC_000009.11:g.139391683T>A , CM000671.1:g.139391683T>A	GRCh37
NC_000009.10:g.138511504T>A	NCBI36
NG_007458.1:g.53556A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6508A>T MANE Select	ENSP00000498587.1:p.Ser2170Cys
ENST00000679595.1:c.*1548A>T	ENSP00000506241.1:n.*1548A>T
ENST00000679969.1:n.3104A>T
ENST00000680003.1:n.2840A>T
ENST00000680133.1:c.6394A>T	ENSP00000505319.1:p.Ser2132Cys
ENST00000680218.1:c.6388A>T	ENSP00000505339.1:p.Ser2130Cys
ENST00000680668.1:c.6394A>T	ENSP00000506336.1:p.Ser2132Cys
ENST00000680778.1:c.4105A>T	ENSP00000506033.1:p.Ser1369Cys
ENST00000680924.1:c.*3908A>T	ENSP00000506031.1:n.*3908A>T
ENST00000681135.1:c.*4117A>T	ENSP00000506636.1:n.*4117A>T
ENST00000681298.1:n.4613A>T
ENST00000681454.1:c.*5744A>T	ENSP00000505763.1:n.*5744A>T
ENST00000277541.6:c.6508A>T	ENSP00000277541.6:p.Ser2170Cys
NM_017617.3:c.6508A>T	NP_060087.3:p.Ser2170Cys
XM_011518717.1:c.5809A>T	XP_011517019.1:p.Ser1937Cys
NM_017617.5:c.6508A>T MANE Select	NP_060087.3:p.Ser2170Cys
XM_011518717.2:c.5785A>T	XP_011517019.2:p.Ser1929Cys