Canonical Allele Identifier: CA375644508

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336224
• MyVariant Identifiers: chr9:g.139399255G>T (hg19) ; chr9:g.136504803G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504803G>T , CM000671.2:g.136504803G>T	GRCh38
NC_000009.11:g.139399255G>T , CM000671.1:g.139399255G>T	GRCh37
NC_000009.10:g.138519076G>T	NCBI36
NG_007458.1:g.45984C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2695C>A
ENST00000651671.1:c.4888C>A MANE Select	ENSP00000498587.1:p.Pro1630Thr
ENST00000679595.1:c.4888C>A	ENSP00000506241.1:p.Pro1630Thr
ENST00000680133.1:c.4774C>A	ENSP00000505319.1:p.Pro1592Thr
ENST00000680218.1:c.4768C>A	ENSP00000505339.1:p.Pro1590Thr
ENST00000680668.1:c.4774C>A	ENSP00000506336.1:p.Pro1592Thr
ENST00000680778.1:c.2485C>A	ENSP00000506033.1:p.Pro829Thr
ENST00000680924.1:c.*2288C>A	ENSP00000506031.1:n.*2288C>A
ENST00000681135.1:c.*2497C>A	ENSP00000506636.1:n.*2497C>A
ENST00000681298.1:n.1701C>A
ENST00000681454.1:c.*4124C>A	ENSP00000505763.1:n.*4124C>A
ENST00000277541.6:c.4888C>A	ENSP00000277541.6:p.Pro1630Thr
ENST00000494783.1:n.43C>A
NM_017617.3:c.4888C>A	NP_060087.3:p.Pro1630Thr
XM_011518717.1:c.4189C>A	XP_011517019.1:p.Pro1397Thr
NM_017617.5:c.4888C>A MANE Select	NP_060087.3:p.Pro1630Thr
XM_011518717.2:c.4165C>A	XP_011517019.2:p.Pro1389Thr