Canonical Allele Identifier: CA467832504

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136497286-G-T
• MyVariant Identifiers: chr9:g.139391738G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497286G>T , CM000671.2:g.136497286G>T	GRCh38
NC_000009.11:g.139391738G>T , CM000671.1:g.139391738G>T	GRCh37
NC_000009.10:g.138511559G>T	NCBI36
NG_007458.1:g.53501C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6453C>A MANE Select	ENSP00000498587.1:p.Pro2151=
ENST00000679595.1:c.*1493C>A	ENSP00000506241.1:n.*1493C>A
ENST00000679969.1:n.3049C>A
ENST00000680003.1:n.2785C>A
ENST00000680133.1:c.6339C>A	ENSP00000505319.1:p.Pro2113=
ENST00000680218.1:c.6333C>A	ENSP00000505339.1:p.Pro2111=
ENST00000680668.1:c.6339C>A	ENSP00000506336.1:p.Pro2113=
ENST00000680778.1:c.4050C>A	ENSP00000506033.1:p.Pro1350=
ENST00000680924.1:c.*3853C>A	ENSP00000506031.1:n.*3853C>A
ENST00000681135.1:c.*4062C>A	ENSP00000506636.1:n.*4062C>A
ENST00000681298.1:n.4558C>A
ENST00000681454.1:c.*5689C>A	ENSP00000505763.1:n.*5689C>A
ENST00000277541.6:c.6453C>A	ENSP00000277541.6:p.Pro2151=
NM_017617.3:c.6453C>A	NP_060087.3:p.Pro2151=
XM_011518717.1:c.5754C>A	XP_011517019.1:p.Pro1918=
NM_017617.5:c.6453C>A MANE Select	NP_060087.3:p.Pro2151=
XM_011518717.2:c.5730C>A	XP_011517019.2:p.Pro1910=