Canonical Allele Identifier: CA467741966

Gene: NOTCH1

Linked Data

• dbSNP Id: rs773609261
• gnomAD v4: 9-136504732-G-T
• MyVariant Identifiers: chr9:g.139399184G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504732G>T , CM000671.2:g.136504732G>T	GRCh38
NC_000009.11:g.139399184G>T , CM000671.1:g.139399184G>T	GRCh37
NC_000009.10:g.138519005G>T	NCBI36
NG_007458.1:g.46055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2766C>A
ENST00000651671.1:c.4959C>A MANE Select	ENSP00000498587.1:p.Leu1653=
ENST00000679595.1:c.4959C>A	ENSP00000506241.1:p.Leu1653=
ENST00000680133.1:c.4845C>A	ENSP00000505319.1:p.Leu1615=
ENST00000680218.1:c.4839C>A	ENSP00000505339.1:p.Leu1613=
ENST00000680668.1:c.4845C>A	ENSP00000506336.1:p.Leu1615=
ENST00000680778.1:c.2556C>A	ENSP00000506033.1:p.Leu852=
ENST00000680924.1:c.*2359C>A	ENSP00000506031.1:n.*2359C>A
ENST00000681135.1:c.*2568C>A	ENSP00000506636.1:n.*2568C>A
ENST00000681298.1:n.1772C>A
ENST00000681454.1:c.*4195C>A	ENSP00000505763.1:n.*4195C>A
ENST00000277541.6:c.4959C>A	ENSP00000277541.6:p.Leu1653=
ENST00000494783.1:n.114C>A
NM_017617.3:c.4959C>A	NP_060087.3:p.Leu1653=
XM_011518717.1:c.4260C>A	XP_011517019.1:p.Leu1420=
NM_017617.5:c.4959C>A MANE Select	NP_060087.3:p.Leu1653=
XM_011518717.2:c.4236C>A	XP_011517019.2:p.Leu1412=