Canonical Allele Identifier: CA375631293

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2718412
• ClinVar RCV Id: RCV003586991
• gnomAD v4: 9-136497187-C-A
• MyVariant Identifiers: chr9:g.139391639C>A (hg19) ; chr9:g.136497187C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497187C>A , CM000671.2:g.136497187C>A	GRCh38
NC_000009.11:g.139391639C>A , CM000671.1:g.139391639C>A	GRCh37
NC_000009.10:g.138511460C>A	NCBI36
NG_007458.1:g.53600G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6552G>T MANE Select	ENSP00000498587.1:p.Gln2184His
ENST00000679595.1:c.*1592G>T	ENSP00000506241.1:n.*1592G>T
ENST00000679969.1:n.3148G>T
ENST00000680003.1:n.2884G>T
ENST00000680133.1:c.6438G>T	ENSP00000505319.1:p.Gln2146His
ENST00000680218.1:c.6432G>T	ENSP00000505339.1:p.Gln2144His
ENST00000680668.1:c.6438G>T	ENSP00000506336.1:p.Gln2146His
ENST00000680778.1:c.4149G>T	ENSP00000506033.1:p.Gln1383His
ENST00000680924.1:c.*3952G>T	ENSP00000506031.1:n.*3952G>T
ENST00000681135.1:c.*4161G>T	ENSP00000506636.1:n.*4161G>T
ENST00000681298.1:n.4657G>T
ENST00000681454.1:c.*5788G>T	ENSP00000505763.1:n.*5788G>T
ENST00000277541.6:c.6552G>T	ENSP00000277541.6:p.Gln2184His
NM_017617.3:c.6552G>T	NP_060087.3:p.Gln2184His
XM_011518717.1:c.5853G>T	XP_011517019.1:p.Gln1951His
NM_017617.5:c.6552G>T MANE Select	NP_060087.3:p.Gln2184His
XM_011518717.2:c.5829G>T	XP_011517019.2:p.Gln1943His