Canonical Allele Identifier: CA375631483

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 3017241
• ClinVar RCV Id: RCV003871360
• gnomAD v4: 9-136497239-G-T
• MyVariant Identifiers: chr9:g.139391691G>T (hg19) ; chr9:g.136497239G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497239G>T , CM000671.2:g.136497239G>T	GRCh38
NC_000009.11:g.139391691G>T , CM000671.1:g.139391691G>T	GRCh37
NC_000009.10:g.138511512G>T	NCBI36
NG_007458.1:g.53548C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6500C>A MANE Select	ENSP00000498587.1:p.Ala2167Asp
ENST00000679595.1:c.*1540C>A	ENSP00000506241.1:n.*1540C>A
ENST00000679969.1:n.3096C>A
ENST00000680003.1:n.2832C>A
ENST00000680133.1:c.6386C>A	ENSP00000505319.1:p.Ala2129Asp
ENST00000680218.1:c.6380C>A	ENSP00000505339.1:p.Ala2127Asp
ENST00000680668.1:c.6386C>A	ENSP00000506336.1:p.Ala2129Asp
ENST00000680778.1:c.4097C>A	ENSP00000506033.1:p.Ala1366Asp
ENST00000680924.1:c.*3900C>A	ENSP00000506031.1:n.*3900C>A
ENST00000681135.1:c.*4109C>A	ENSP00000506636.1:n.*4109C>A
ENST00000681298.1:n.4605C>A
ENST00000681454.1:c.*5736C>A	ENSP00000505763.1:n.*5736C>A
ENST00000277541.6:c.6500C>A	ENSP00000277541.6:p.Ala2167Asp
NM_017617.3:c.6500C>A	NP_060087.3:p.Ala2167Asp
XM_011518717.1:c.5801C>A	XP_011517019.1:p.Ala1934Asp
NM_017617.5:c.6500C>A MANE Select	NP_060087.3:p.Ala2167Asp
XM_011518717.2:c.5777C>A	XP_011517019.2:p.Ala1926Asp