Canonical Allele Identifier: CA467832760

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336850
• gnomAD v4: 9-136504912-C-T
• MyVariant Identifiers: chr9:g.139399364C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504912C>T , CM000671.2:g.136504912C>T	GRCh38
NC_000009.11:g.139399364C>T , CM000671.1:g.139399364C>T	GRCh37
NC_000009.10:g.138519185C>T	NCBI36
NG_007458.1:g.45875G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2586G>A
ENST00000651671.1:c.4779G>A MANE Select	ENSP00000498587.1:p.Leu1593=
ENST00000679595.1:c.4779G>A	ENSP00000506241.1:p.Leu1593=
ENST00000680133.1:c.4665G>A	ENSP00000505319.1:p.Leu1555=
ENST00000680218.1:c.4659G>A	ENSP00000505339.1:p.Leu1553=
ENST00000680668.1:c.4665G>A	ENSP00000506336.1:p.Leu1555=
ENST00000680778.1:c.2376G>A	ENSP00000506033.1:p.Leu792=
ENST00000680924.1:c.*2179G>A	ENSP00000506031.1:n.*2179G>A
ENST00000681135.1:c.*2388G>A	ENSP00000506636.1:n.*2388G>A
ENST00000681298.1:n.1592G>A
ENST00000681454.1:c.*4015G>A	ENSP00000505763.1:n.*4015G>A
ENST00000277541.6:c.4779G>A	ENSP00000277541.6:p.Leu1593=
NM_017617.3:c.4779G>A	NP_060087.3:p.Leu1593=
XM_011518717.1:c.4080G>A	XP_011517019.1:p.Leu1360=
NM_017617.5:c.4779G>A MANE Select	NP_060087.3:p.Leu1593=
XM_011518717.2:c.4056G>A	XP_011517019.2:p.Leu1352=