Canonical Allele Identifier: CA467741912

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1261728735
• gnomAD v2: 9-139399145-C-T
• gnomAD v4: 9-136504693-C-T
• MyVariant Identifiers: chr9:g.139399145C>T (hg19) ; chr9:g.136504693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504693C>T , CM000671.2:g.136504693C>T	GRCh38
NC_000009.11:g.139399145C>T , CM000671.1:g.139399145C>T	GRCh37
NC_000009.10:g.138518966C>T	NCBI36
NG_007458.1:g.46094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2805G>A
ENST00000651671.1:c.4998G>A MANE Select	ENSP00000498587.1:p.Leu1666=
ENST00000679595.1:c.4998G>A	ENSP00000506241.1:p.Leu1666=
ENST00000680133.1:c.4884G>A	ENSP00000505319.1:p.Leu1628=
ENST00000680218.1:c.4878G>A	ENSP00000505339.1:p.Leu1626=
ENST00000680668.1:c.4884G>A	ENSP00000506336.1:p.Leu1628=
ENST00000680778.1:c.2595G>A	ENSP00000506033.1:p.Leu865=
ENST00000680924.1:c.*2398G>A	ENSP00000506031.1:n.*2398G>A
ENST00000681135.1:c.*2607G>A	ENSP00000506636.1:n.*2607G>A
ENST00000681298.1:n.1811G>A
ENST00000681454.1:c.*4234G>A	ENSP00000505763.1:n.*4234G>A
ENST00000277541.6:c.4998G>A	ENSP00000277541.6:p.Leu1666=
ENST00000494783.1:n.153G>A
NM_017617.3:c.4998G>A	NP_060087.3:p.Leu1666=
XM_011518717.1:c.4299G>A	XP_011517019.1:p.Leu1433=
NM_017617.5:c.4998G>A MANE Select	NP_060087.3:p.Leu1666=
XM_011518717.2:c.4275G>A	XP_011517019.2:p.Leu1425=