Canonical Allele Identifier: CA467832356

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318134
• gnomAD v4: 9-136497211-G-T
• MyVariant Identifiers: chr9:g.139391663G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497211G>T , CM000671.2:g.136497211G>T	GRCh38
NC_000009.11:g.139391663G>T , CM000671.1:g.139391663G>T	GRCh37
NC_000009.10:g.138511484G>T	NCBI36
NG_007458.1:g.53576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6528C>A MANE Select	ENSP00000498587.1:p.Leu2176=
ENST00000679595.1:c.*1568C>A	ENSP00000506241.1:n.*1568C>A
ENST00000679969.1:n.3124C>A
ENST00000680003.1:n.2860C>A
ENST00000680133.1:c.6414C>A	ENSP00000505319.1:p.Leu2138=
ENST00000680218.1:c.6408C>A	ENSP00000505339.1:p.Leu2136=
ENST00000680668.1:c.6414C>A	ENSP00000506336.1:p.Leu2138=
ENST00000680778.1:c.4125C>A	ENSP00000506033.1:p.Leu1375=
ENST00000680924.1:c.*3928C>A	ENSP00000506031.1:n.*3928C>A
ENST00000681135.1:c.*4137C>A	ENSP00000506636.1:n.*4137C>A
ENST00000681298.1:n.4633C>A
ENST00000681454.1:c.*5764C>A	ENSP00000505763.1:n.*5764C>A
ENST00000277541.6:c.6528C>A	ENSP00000277541.6:p.Leu2176=
NM_017617.3:c.6528C>A	NP_060087.3:p.Leu2176=
XM_011518717.1:c.5829C>A	XP_011517019.1:p.Leu1943=
NM_017617.5:c.6528C>A MANE Select	NP_060087.3:p.Leu2176=
XM_011518717.2:c.5805C>A	XP_011517019.2:p.Leu1935=