Canonical Allele Identifier: CA5340057

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 264290
• ClinVar RCV Id: RCV002270176 ; RCV002311126 ; RCV000875245
• dbSNP Id: rs202198360
• ExAC: 9:139393592 G / A
• gnomAD v2: 9-139393592-G-A
• gnomAD v3: 9-136499140-G-A
• gnomAD v4: 9-136499140-G-A
• MyVariant Identifiers: chr9:g.139393592G>A (hg19) ; chr9:g.136499140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499140G>A , CM000671.2:g.136499140G>A	GRCh38
NC_000009.11:g.139393592G>A , CM000671.1:g.139393592G>A	GRCh37
NC_000009.10:g.138513413G>A	NCBI36
NG_007458.1:g.51647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6054C>T MANE Select	ENSP00000498587.1:p.His2018=
ENST00000679595.1:c.*1094C>T	ENSP00000506241.1:n.*1094C>T
ENST00000679969.1:n.2535C>T
ENST00000680003.1:n.2386C>T
ENST00000680133.1:c.5940C>T	ENSP00000505319.1:p.His1980=
ENST00000680218.1:c.5934C>T	ENSP00000505339.1:p.His1978=
ENST00000680668.1:c.5940C>T	ENSP00000506336.1:p.His1980=
ENST00000680778.1:c.3651C>T	ENSP00000506033.1:p.His1217=
ENST00000680924.1:c.*3454C>T	ENSP00000506031.1:n.*3454C>T
ENST00000681135.1:c.*3663C>T	ENSP00000506636.1:n.*3663C>T
ENST00000681298.1:n.4159C>T
ENST00000681454.1:c.*5290C>T	ENSP00000505763.1:n.*5290C>T
ENST00000277541.6:c.6054C>T	ENSP00000277541.6:p.His2018=
NM_017617.3:c.6054C>T	NP_060087.3:p.His2018=
XM_011518717.1:c.5355C>T	XP_011517019.1:p.His1785=
NM_017617.5:c.6054C>T MANE Select	NP_060087.3:p.His2018=
XM_011518717.2:c.5331C>T	XP_011517019.2:p.His1777=