Canonical Allele Identifier: CA375634352

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322669
• MyVariant Identifiers: chr9:g.139393597A>T (hg19) ; chr9:g.136499145A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499145A>T , CM000671.2:g.136499145A>T	GRCh38
NC_000009.11:g.139393597A>T , CM000671.1:g.139393597A>T	GRCh37
NC_000009.10:g.138513418A>T	NCBI36
NG_007458.1:g.51642T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6049T>A MANE Select	ENSP00000498587.1:p.Ser2017Thr
ENST00000679595.1:c.*1089T>A	ENSP00000506241.1:n.*1089T>A
ENST00000679969.1:n.2530T>A
ENST00000680003.1:n.2381T>A
ENST00000680133.1:c.5935T>A	ENSP00000505319.1:p.Ser1979Thr
ENST00000680218.1:c.5929T>A	ENSP00000505339.1:p.Ser1977Thr
ENST00000680668.1:c.5935T>A	ENSP00000506336.1:p.Ser1979Thr
ENST00000680778.1:c.3646T>A	ENSP00000506033.1:p.Ser1216Thr
ENST00000680924.1:c.*3449T>A	ENSP00000506031.1:n.*3449T>A
ENST00000681135.1:c.*3658T>A	ENSP00000506636.1:n.*3658T>A
ENST00000681298.1:n.4154T>A
ENST00000681454.1:c.*5285T>A	ENSP00000505763.1:n.*5285T>A
ENST00000277541.6:c.6049T>A	ENSP00000277541.6:p.Ser2017Thr
NM_017617.3:c.6049T>A	NP_060087.3:p.Ser2017Thr
XM_011518717.1:c.5350T>A	XP_011517019.1:p.Ser1784Thr
NM_017617.5:c.6049T>A MANE Select	NP_060087.3:p.Ser2017Thr
XM_011518717.2:c.5326T>A	XP_011517019.2:p.Ser1776Thr