Canonical Allele Identifier: CA375634263

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136499123-A-G
• MyVariant Identifiers: chr9:g.139393575A>G (hg19) ; chr9:g.136499123A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499123A>G , CM000671.2:g.136499123A>G	GRCh38
NC_000009.11:g.139393575A>G , CM000671.1:g.139393575A>G	GRCh37
NC_000009.10:g.138513396A>G	NCBI36
NG_007458.1:g.51664T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6071T>C MANE Select	ENSP00000498587.1:p.Val2024Ala
ENST00000679595.1:c.*1111T>C	ENSP00000506241.1:n.*1111T>C
ENST00000679969.1:n.2552T>C
ENST00000680003.1:n.2403T>C
ENST00000680133.1:c.5957T>C	ENSP00000505319.1:p.Val1986Ala
ENST00000680218.1:c.5951T>C	ENSP00000505339.1:p.Val1984Ala
ENST00000680668.1:c.5957T>C	ENSP00000506336.1:p.Val1986Ala
ENST00000680778.1:c.3668T>C	ENSP00000506033.1:p.Val1223Ala
ENST00000680924.1:c.*3471T>C	ENSP00000506031.1:n.*3471T>C
ENST00000681135.1:c.*3680T>C	ENSP00000506636.1:n.*3680T>C
ENST00000681298.1:n.4176T>C
ENST00000681454.1:c.*5307T>C	ENSP00000505763.1:n.*5307T>C
ENST00000277541.6:c.6071T>C	ENSP00000277541.6:p.Val2024Ala
NM_017617.3:c.6071T>C	NP_060087.3:p.Val2024Ala
XM_011518717.1:c.5372T>C	XP_011517019.1:p.Val1791Ala
NM_017617.5:c.6071T>C MANE Select	NP_060087.3:p.Val2024Ala
XM_011518717.2:c.5348T>C	XP_011517019.2:p.Val1783Ala