Canonical Allele Identifier: CA5340021

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 695882
• ClinVar RCV Id: RCV000861873 ; RCV002352506 ; RCV003432792 ; RCV004538183
• dbSNP Id: rs773621396
• ExAC: 9:139393441 G / A
• gnomAD v2: 9-139393441-G-A
• gnomAD v3: 9-136498989-G-A
• gnomAD v4: 9-136498989-G-A
• MyVariant Identifiers: chr9:g.139393441G>A (hg19) ; chr9:g.136498989G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498989G>A , CM000671.2:g.136498989G>A	GRCh38
NC_000009.11:g.139393441G>A , CM000671.1:g.139393441G>A	GRCh37
NC_000009.10:g.138513262G>A	NCBI36
NG_007458.1:g.51798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6090C>T MANE Select	ENSP00000498587.1:p.Ser2030=
ENST00000679595.1:c.*1130C>T	ENSP00000506241.1:n.*1130C>T
ENST00000679969.1:n.2686C>T
ENST00000680003.1:n.2422C>T
ENST00000680133.1:c.5976C>T	ENSP00000505319.1:p.Ser1992=
ENST00000680218.1:c.5970C>T	ENSP00000505339.1:p.Ser1990=
ENST00000680668.1:c.5976C>T	ENSP00000506336.1:p.Ser1992=
ENST00000680778.1:c.3687C>T	ENSP00000506033.1:p.Ser1229=
ENST00000680924.1:c.*3490C>T	ENSP00000506031.1:n.*3490C>T
ENST00000681135.1:c.*3699C>T	ENSP00000506636.1:n.*3699C>T
ENST00000681298.1:n.4195C>T
ENST00000681454.1:c.*5326C>T	ENSP00000505763.1:n.*5326C>T
ENST00000277541.6:c.6090C>T	ENSP00000277541.6:p.Ser2030=
NM_017617.3:c.6090C>T	NP_060087.3:p.Ser2030=
XM_011518717.1:c.5391C>T	XP_011517019.1:p.Ser1797=
NM_017617.5:c.6090C>T MANE Select	NP_060087.3:p.Ser2030=
XM_011518717.2:c.5367C>T	XP_011517019.2:p.Ser1789=