Canonical Allele Identifier: CA5340484

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1744553
• ClinVar RCV Id: RCV002342918 ; RCV003776007
• dbSNP Id: rs769050541
• ExAC: 9:139399156 G / A
• gnomAD v2: 9-139399156-G-A
• gnomAD v3: 9-136504704-G-A
• gnomAD v4: 9-136504704-G-A
• COSMIC: COSM308593
• MyVariant Identifiers: chr9:g.139399156G>A (hg19) ; chr9:g.136504704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504704G>A , CM000671.2:g.136504704G>A	GRCh38
NC_000009.11:g.139399156G>A , CM000671.1:g.139399156G>A	GRCh37
NC_000009.10:g.138518977G>A	NCBI36
NG_007458.1:g.46083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2794C>T
ENST00000651671.1:c.4987C>T MANE Select	ENSP00000498587.1:p.Arg1663Trp
ENST00000679595.1:c.4987C>T	ENSP00000506241.1:p.Arg1663Trp
ENST00000680133.1:c.4873C>T	ENSP00000505319.1:p.Arg1625Trp
ENST00000680218.1:c.4867C>T	ENSP00000505339.1:p.Arg1623Trp
ENST00000680668.1:c.4873C>T	ENSP00000506336.1:p.Arg1625Trp
ENST00000680778.1:c.2584C>T	ENSP00000506033.1:p.Arg862Trp
ENST00000680924.1:c.*2387C>T	ENSP00000506031.1:n.*2387C>T
ENST00000681135.1:c.*2596C>T	ENSP00000506636.1:n.*2596C>T
ENST00000681298.1:n.1800C>T
ENST00000681454.1:c.*4223C>T	ENSP00000505763.1:n.*4223C>T
ENST00000277541.6:c.4987C>T	ENSP00000277541.6:p.Arg1663Trp
ENST00000494783.1:n.142C>T
NM_017617.3:c.4987C>T	NP_060087.3:p.Arg1663Trp
XM_011518717.1:c.4288C>T	XP_011517019.1:p.Arg1430Trp
NM_017617.5:c.4987C>T MANE Select	NP_060087.3:p.Arg1663Trp
XM_011518717.2:c.4264C>T	XP_011517019.2:p.Arg1422Trp