Canonical Allele Identifier: CA467738431

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2898281
• ClinVar RCV Id: RCV003748868
• dbSNP Id: rs1842959494
• gnomAD v4: 9-136499122-T-A
• MyVariant Identifiers: chr9:g.139393574T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499122T>A , CM000671.2:g.136499122T>A	GRCh38
NC_000009.11:g.139393574T>A , CM000671.1:g.139393574T>A	GRCh37
NC_000009.10:g.138513395T>A	NCBI36
NG_007458.1:g.51665A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6072A>T MANE Select	ENSP00000498587.1:p.Val2024=
ENST00000679595.1:c.*1112A>T	ENSP00000506241.1:n.*1112A>T
ENST00000679969.1:n.2553A>T
ENST00000680003.1:n.2404A>T
ENST00000680133.1:c.5958A>T	ENSP00000505319.1:p.Val1986=
ENST00000680218.1:c.5952A>T	ENSP00000505339.1:p.Val1984=
ENST00000680668.1:c.5958A>T	ENSP00000506336.1:p.Val1986=
ENST00000680778.1:c.3669A>T	ENSP00000506033.1:p.Val1223=
ENST00000680924.1:c.*3472A>T	ENSP00000506031.1:n.*3472A>T
ENST00000681135.1:c.*3681A>T	ENSP00000506636.1:n.*3681A>T
ENST00000681298.1:n.4177A>T
ENST00000681454.1:c.*5308A>T	ENSP00000505763.1:n.*5308A>T
ENST00000277541.6:c.6072A>T	ENSP00000277541.6:p.Val2024=
NM_017617.3:c.6072A>T	NP_060087.3:p.Val2024=
XM_011518717.1:c.5373A>T	XP_011517019.1:p.Val1791=
NM_017617.5:c.6072A>T MANE Select	NP_060087.3:p.Val2024=
XM_011518717.2:c.5349A>T	XP_011517019.2:p.Val1783=