Canonical Allele Identifier: CA375631184

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317904
• MyVariant Identifiers: chr9:g.139391611A>T (hg19) ; chr9:g.136497159A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497159A>T , CM000671.2:g.136497159A>T	GRCh38
NC_000009.11:g.139391611A>T , CM000671.1:g.139391611A>T	GRCh37
NC_000009.10:g.138511432A>T	NCBI36
NG_007458.1:g.53628T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6580T>A MANE Select	ENSP00000498587.1:p.Ser2194Thr
ENST00000679595.1:c.*1620T>A	ENSP00000506241.1:n.*1620T>A
ENST00000679969.1:n.3176T>A
ENST00000680003.1:n.2912T>A
ENST00000680133.1:c.6466T>A	ENSP00000505319.1:p.Ser2156Thr
ENST00000680218.1:c.6460T>A	ENSP00000505339.1:p.Ser2154Thr
ENST00000680668.1:c.6466T>A	ENSP00000506336.1:p.Ser2156Thr
ENST00000680778.1:c.4177T>A	ENSP00000506033.1:p.Ser1393Thr
ENST00000680924.1:c.*3980T>A	ENSP00000506031.1:n.*3980T>A
ENST00000681135.1:c.*4189T>A	ENSP00000506636.1:n.*4189T>A
ENST00000681298.1:n.4685T>A
ENST00000681454.1:c.*5816T>A	ENSP00000505763.1:n.*5816T>A
ENST00000277541.6:c.6580T>A	ENSP00000277541.6:p.Ser2194Thr
NM_017617.3:c.6580T>A	NP_060087.3:p.Ser2194Thr
XM_011518717.1:c.5881T>A	XP_011517019.1:p.Ser1961Thr
NM_017617.5:c.6580T>A MANE Select	NP_060087.3:p.Ser2194Thr
XM_011518717.2:c.5857T>A	XP_011517019.2:p.Ser1953Thr