Canonical Allele Identifier: CA467832151

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391600G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497148G>T , CM000671.2:g.136497148G>T	GRCh38
NC_000009.11:g.139391600G>T , CM000671.1:g.139391600G>T	GRCh37
NC_000009.10:g.138511421G>T	NCBI36
NG_007458.1:g.53639C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6591C>A MANE Select	ENSP00000498587.1:p.Leu2197=
ENST00000679595.1:c.*1631C>A	ENSP00000506241.1:n.*1631C>A
ENST00000679969.1:n.3187C>A
ENST00000680003.1:n.2923C>A
ENST00000680133.1:c.6477C>A	ENSP00000505319.1:p.Leu2159=
ENST00000680218.1:c.6471C>A	ENSP00000505339.1:p.Leu2157=
ENST00000680668.1:c.6477C>A	ENSP00000506336.1:p.Leu2159=
ENST00000680778.1:c.4188C>A	ENSP00000506033.1:p.Leu1396=
ENST00000680924.1:c.*3991C>A	ENSP00000506031.1:n.*3991C>A
ENST00000681135.1:c.*4200C>A	ENSP00000506636.1:n.*4200C>A
ENST00000681298.1:n.4696C>A
ENST00000681454.1:c.*5827C>A	ENSP00000505763.1:n.*5827C>A
ENST00000277541.6:c.6591C>A	ENSP00000277541.6:p.Leu2197=
NM_017617.3:c.6591C>A	NP_060087.3:p.Leu2197=
XM_011518717.1:c.5892C>A	XP_011517019.1:p.Leu1964=
NM_017617.5:c.6591C>A MANE Select	NP_060087.3:p.Leu2197=
XM_011518717.2:c.5868C>A	XP_011517019.2:p.Leu1956=