Canonical Allele Identifier: CA467832478

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136497274-G-T
• MyVariant Identifiers: chr9:g.139391726G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497274G>T , CM000671.2:g.136497274G>T	GRCh38
NC_000009.11:g.139391726G>T , CM000671.1:g.139391726G>T	GRCh37
NC_000009.10:g.138511547G>T	NCBI36
NG_007458.1:g.53513C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6465C>A MANE Select	ENSP00000498587.1:p.Gly2155=
ENST00000679595.1:c.*1505C>A	ENSP00000506241.1:n.*1505C>A
ENST00000679969.1:n.3061C>A
ENST00000680003.1:n.2797C>A
ENST00000680133.1:c.6351C>A	ENSP00000505319.1:p.Gly2117=
ENST00000680218.1:c.6345C>A	ENSP00000505339.1:p.Gly2115=
ENST00000680668.1:c.6351C>A	ENSP00000506336.1:p.Gly2117=
ENST00000680778.1:c.4062C>A	ENSP00000506033.1:p.Gly1354=
ENST00000680924.1:c.*3865C>A	ENSP00000506031.1:n.*3865C>A
ENST00000681135.1:c.*4074C>A	ENSP00000506636.1:n.*4074C>A
ENST00000681298.1:n.4570C>A
ENST00000681454.1:c.*5701C>A	ENSP00000505763.1:n.*5701C>A
ENST00000277541.6:c.6465C>A	ENSP00000277541.6:p.Gly2155=
NM_017617.3:c.6465C>A	NP_060087.3:p.Gly2155=
XM_011518717.1:c.5766C>A	XP_011517019.1:p.Gly1922=
NM_017617.5:c.6465C>A MANE Select	NP_060087.3:p.Gly2155=
XM_011518717.2:c.5742C>A	XP_011517019.2:p.Gly1914=