Canonical Allele Identifier: CA467832673

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136497385-C-T
• MyVariant Identifiers: chr9:g.139391837C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497385C>T , CM000671.2:g.136497385C>T	GRCh38
NC_000009.11:g.139391837C>T , CM000671.1:g.139391837C>T	GRCh37
NC_000009.10:g.138511658C>T	NCBI36
NG_007458.1:g.53402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6354G>A MANE Select	ENSP00000498587.1:p.Leu2118=
ENST00000679595.1:c.*1394G>A	ENSP00000506241.1:n.*1394G>A
ENST00000679969.1:n.2950G>A
ENST00000680003.1:n.2686G>A
ENST00000680133.1:c.6240G>A	ENSP00000505319.1:p.Leu2080=
ENST00000680218.1:c.6234G>A	ENSP00000505339.1:p.Leu2078=
ENST00000680668.1:c.6240G>A	ENSP00000506336.1:p.Leu2080=
ENST00000680778.1:c.3951G>A	ENSP00000506033.1:p.Leu1317=
ENST00000680924.1:c.*3754G>A	ENSP00000506031.1:n.*3754G>A
ENST00000681135.1:c.*3963G>A	ENSP00000506636.1:n.*3963G>A
ENST00000681298.1:n.4459G>A
ENST00000681454.1:c.*5590G>A	ENSP00000505763.1:n.*5590G>A
ENST00000277541.6:c.6354G>A	ENSP00000277541.6:p.Leu2118=
NM_017617.3:c.6354G>A	NP_060087.3:p.Leu2118=
XM_011518717.1:c.5655G>A	XP_011517019.1:p.Leu1885=
NM_017617.5:c.6354G>A MANE Select	NP_060087.3:p.Leu2118=
XM_011518717.2:c.5631G>A	XP_011517019.2:p.Leu1877=