Canonical Allele Identifier: CA467738320

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1938660
• ClinVar RCV Id: RCV002646460
• dbSNP Id: rs773621396
• gnomAD v3: 9-136498989-G-C
• gnomAD v4: 9-136498989-G-C
• MyVariant Identifiers: chr9:g.139393441G>C (hg19)

Genomic Alleles

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

Transcript Alleles

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