Canonical Allele Identifier: CA375634301

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2573695
• ClinVar RCV Id: RCV003318031
• dbSNP Id: rs759643831
• MyVariant Identifiers: chr9:g.139393585C>A (hg19) ; chr9:g.136499133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499133C>A , CM000671.2:g.136499133C>A	GRCh38
NC_000009.11:g.139393585C>A , CM000671.1:g.139393585C>A	GRCh37
NC_000009.10:g.138513406C>A	NCBI36
NG_007458.1:g.51654G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6061G>T MANE Select	ENSP00000498587.1:p.Val2021Phe
ENST00000679595.1:c.*1101G>T	ENSP00000506241.1:n.*1101G>T
ENST00000679969.1:n.2542G>T
ENST00000680003.1:n.2393G>T
ENST00000680133.1:c.5947G>T	ENSP00000505319.1:p.Val1983Phe
ENST00000680218.1:c.5941G>T	ENSP00000505339.1:p.Val1981Phe
ENST00000680668.1:c.5947G>T	ENSP00000506336.1:p.Val1983Phe
ENST00000680778.1:c.3658G>T	ENSP00000506033.1:p.Val1220Phe
ENST00000680924.1:c.*3461G>T	ENSP00000506031.1:n.*3461G>T
ENST00000681135.1:c.*3670G>T	ENSP00000506636.1:n.*3670G>T
ENST00000681298.1:n.4166G>T
ENST00000681454.1:c.*5297G>T	ENSP00000505763.1:n.*5297G>T
ENST00000277541.6:c.6061G>T	ENSP00000277541.6:p.Val2021Phe
NM_017617.3:c.6061G>T	NP_060087.3:p.Val2021Phe
XM_011518717.1:c.5362G>T	XP_011517019.1:p.Val1788Phe
NM_017617.5:c.6061G>T MANE Select	NP_060087.3:p.Val2021Phe
XM_011518717.2:c.5338G>T	XP_011517019.2:p.Val1780Phe