Canonical Allele Identifier: CA375631861

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136497354-G-T
• MyVariant Identifiers: chr9:g.139391806G>T (hg19) ; chr9:g.136497354G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497354G>T , CM000671.2:g.136497354G>T	GRCh38
NC_000009.11:g.139391806G>T , CM000671.1:g.139391806G>T	GRCh37
NC_000009.10:g.138511627G>T	NCBI36
NG_007458.1:g.53433C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6385C>A MANE Select	ENSP00000498587.1:p.Leu2129Met
ENST00000679595.1:c.*1425C>A	ENSP00000506241.1:n.*1425C>A
ENST00000679969.1:n.2981C>A
ENST00000680003.1:n.2717C>A
ENST00000680133.1:c.6271C>A	ENSP00000505319.1:p.Leu2091Met
ENST00000680218.1:c.6265C>A	ENSP00000505339.1:p.Leu2089Met
ENST00000680668.1:c.6271C>A	ENSP00000506336.1:p.Leu2091Met
ENST00000680778.1:c.3982C>A	ENSP00000506033.1:p.Leu1328Met
ENST00000680924.1:c.*3785C>A	ENSP00000506031.1:n.*3785C>A
ENST00000681135.1:c.*3994C>A	ENSP00000506636.1:n.*3994C>A
ENST00000681298.1:n.4490C>A
ENST00000681454.1:c.*5621C>A	ENSP00000505763.1:n.*5621C>A
ENST00000277541.6:c.6385C>A	ENSP00000277541.6:p.Leu2129Met
NM_017617.3:c.6385C>A	NP_060087.3:p.Leu2129Met
XM_011518717.1:c.5686C>A	XP_011517019.1:p.Leu1896Met
NM_017617.5:c.6385C>A MANE Select	NP_060087.3:p.Leu2129Met
XM_011518717.2:c.5662C>A	XP_011517019.2:p.Leu1888Met