Canonical Allele Identifier: CA375634921

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 520784
• ClinVar RCV Id: RCV000623489 ; RCV001849412 ; RCV003444001
• dbSNP Id: rs1554826746
• COSMIC: COSM99926 ; COSM99927
• MyVariant Identifiers: chr9:g.139393696G>A (hg19) ; chr9:g.136499244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499244G>A , CM000671.2:g.136499244G>A	GRCh38
NC_000009.11:g.139393696G>A , CM000671.1:g.139393696G>A	GRCh37
NC_000009.10:g.138513517G>A	NCBI36
NG_007458.1:g.51543C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651671.1:c.5950C>T MANE Select	ENSP00000498587.1:p.Arg1984Ter
ENST00000679595.1:c.*990C>T	ENSP00000506241.1:n.*990C>T
ENST00000679969.1:n.2431C>T
ENST00000680003.1:n.2282C>T
ENST00000680133.1:c.5836C>T	ENSP00000505319.1:p.Arg1946Ter
ENST00000680218.1:c.5830C>T	ENSP00000505339.1:p.Arg1944Ter
ENST00000680668.1:c.5836C>T	ENSP00000506336.1:p.Arg1946Ter
ENST00000680778.1:c.3547C>T	ENSP00000506033.1:p.Arg1183Ter
ENST00000680924.1:c.*3350C>T	ENSP00000506031.1:n.*3350C>T
ENST00000681135.1:c.*3559C>T	ENSP00000506636.1:n.*3559C>T
ENST00000681298.1:n.4055C>T
ENST00000681454.1:c.*5186C>T	ENSP00000505763.1:n.*5186C>T
ENST00000277541.6:c.5950C>T	ENSP00000277541.6:p.Arg1984Ter
NM_017617.3:c.5950C>T	NP_060087.3:p.Arg1984Ter
XM_011518717.1:c.5251C>T	XP_011517019.1:p.Arg1751Ter
NM_017617.5:c.5950C>T MANE Select	NP_060087.3:p.Arg1984Ter
XM_011518717.2:c.5227C>T	XP_011517019.2:p.Arg1743Ter