Canonical Allele Identifier: CA467832627

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318848
• MyVariant Identifiers: chr9:g.139391804C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497352C>T , CM000671.2:g.136497352C>T	GRCh38
NC_000009.11:g.139391804C>T , CM000671.1:g.139391804C>T	GRCh37
NC_000009.10:g.138511625C>T	NCBI36
NG_007458.1:g.53435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6387G>A MANE Select	ENSP00000498587.1:p.Leu2129=
ENST00000679595.1:c.*1427G>A	ENSP00000506241.1:n.*1427G>A
ENST00000679969.1:n.2983G>A
ENST00000680003.1:n.2719G>A
ENST00000680133.1:c.6273G>A	ENSP00000505319.1:p.Leu2091=
ENST00000680218.1:c.6267G>A	ENSP00000505339.1:p.Leu2089=
ENST00000680668.1:c.6273G>A	ENSP00000506336.1:p.Leu2091=
ENST00000680778.1:c.3984G>A	ENSP00000506033.1:p.Leu1328=
ENST00000680924.1:c.*3787G>A	ENSP00000506031.1:n.*3787G>A
ENST00000681135.1:c.*3996G>A	ENSP00000506636.1:n.*3996G>A
ENST00000681298.1:n.4492G>A
ENST00000681454.1:c.*5623G>A	ENSP00000505763.1:n.*5623G>A
ENST00000277541.6:c.6387G>A	ENSP00000277541.6:p.Leu2129=
NM_017617.3:c.6387G>A	NP_060087.3:p.Leu2129=
XM_011518717.1:c.5688G>A	XP_011517019.1:p.Leu1896=
NM_017617.5:c.6387G>A MANE Select	NP_060087.3:p.Leu2129=
XM_011518717.2:c.5664G>A	XP_011517019.2:p.Leu1888=