Canonical Allele Identifier: CA5340504

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1036564
• ClinVar RCV Id: RCV001339595 ; RCV001552691 ; RCV002271221
• dbSNP Id: rs778271353
• ExAC: 9:139399278 C / T
• gnomAD v2: 9-139399278-C-T
• gnomAD v4: 9-136504826-C-T
• MyVariant Identifiers: chr9:g.139399278C>T (hg19) ; chr9:g.136504826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504826C>T , CM000671.2:g.136504826C>T	GRCh38
NC_000009.11:g.139399278C>T , CM000671.1:g.139399278C>T	GRCh37
NC_000009.10:g.138519099C>T	NCBI36
NG_007458.1:g.45961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2672G>A
ENST00000651671.1:c.4865G>A MANE Select	ENSP00000498587.1:p.Arg1622His
ENST00000679595.1:c.4865G>A	ENSP00000506241.1:p.Arg1622His
ENST00000680133.1:c.4751G>A	ENSP00000505319.1:p.Arg1584His
ENST00000680218.1:c.4745G>A	ENSP00000505339.1:p.Arg1582His
ENST00000680668.1:c.4751G>A	ENSP00000506336.1:p.Arg1584His
ENST00000680778.1:c.2462G>A	ENSP00000506033.1:p.Arg821His
ENST00000680924.1:c.*2265G>A	ENSP00000506031.1:n.*2265G>A
ENST00000681135.1:c.*2474G>A	ENSP00000506636.1:n.*2474G>A
ENST00000681298.1:n.1678G>A
ENST00000681454.1:c.*4101G>A	ENSP00000505763.1:n.*4101G>A
ENST00000277541.6:c.4865G>A	ENSP00000277541.6:p.Arg1622His
ENST00000494783.1:n.20G>A
NM_017617.3:c.4865G>A	NP_060087.3:p.Arg1622His
XM_011518717.1:c.4166G>A	XP_011517019.1:p.Arg1389His
NM_017617.5:c.4865G>A MANE Select	NP_060087.3:p.Arg1622His
XM_011518717.2:c.4142G>A	XP_011517019.2:p.Arg1381His