Canonical Allele Identifier: CA375633945

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 426315
• ClinVar RCV Id: RCV000489510 ; RCV003748233
• dbSNP Id: rs1085307562
• gnomAD v2: 9-139393400-G-A
• gnomAD v4: 9-136498948-G-A
• COSMIC: COSM1163529 ; COSM1163530
• MyVariant Identifiers: chr9:g.139393400G>A (hg19) ; chr9:g.136498948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498948G>A , CM000671.2:g.136498948G>A	GRCh38
NC_000009.11:g.139393400G>A , CM000671.1:g.139393400G>A	GRCh37
NC_000009.10:g.138513221G>A	NCBI36
NG_007458.1:g.51839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6131C>T MANE Select	ENSP00000498587.1:p.Ala2044Val
ENST00000679595.1:c.*1171C>T	ENSP00000506241.1:n.*1171C>T
ENST00000679969.1:n.2727C>T
ENST00000680003.1:n.2463C>T
ENST00000680133.1:c.6017C>T	ENSP00000505319.1:p.Ala2006Val
ENST00000680218.1:c.6011C>T	ENSP00000505339.1:p.Ala2004Val
ENST00000680668.1:c.6017C>T	ENSP00000506336.1:p.Ala2006Val
ENST00000680778.1:c.3728C>T	ENSP00000506033.1:p.Ala1243Val
ENST00000680924.1:c.*3531C>T	ENSP00000506031.1:n.*3531C>T
ENST00000681135.1:c.*3740C>T	ENSP00000506636.1:n.*3740C>T
ENST00000681298.1:n.4236C>T
ENST00000681454.1:c.*5367C>T	ENSP00000505763.1:n.*5367C>T
ENST00000277541.6:c.6131C>T	ENSP00000277541.6:p.Ala2044Val
NM_017617.3:c.6131C>T	NP_060087.3:p.Ala2044Val
XM_011518717.1:c.5432C>T	XP_011517019.1:p.Ala1811Val
NM_017617.5:c.6131C>T MANE Select	NP_060087.3:p.Ala2044Val
XM_011518717.2:c.5408C>T	XP_011517019.2:p.Ala1803Val