Canonical Allele Identifier: CA375562778

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1304412
• ClinVar RCV Id: RCV001752179
• dbSNP Id: rs1448146225
• gnomAD v2: 9-139412204-C-T
• gnomAD v4: 9-136517752-C-T
• COSMIC: COSM120965 ; COSM120966
• MyVariant Identifiers: chr9:g.139412204C>T (hg19) ; chr9:g.136517752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517752C>T , CM000671.2:g.136517752C>T	GRCh38
NC_000009.11:g.139412204C>T , CM000671.1:g.139412204C>T	GRCh37
NC_000009.10:g.138532025C>T	NCBI36
NG_007458.1:g.33035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1441G>A MANE Select	ENSP00000498587.1:p.Gly481Ser
ENST00000679595.1:c.1441G>A	ENSP00000506241.1:p.Gly481Ser
ENST00000680133.1:c.1441G>A	ENSP00000505319.1:p.Gly481Ser
ENST00000680218.1:c.1441G>A	ENSP00000505339.1:p.Gly481Ser
ENST00000680668.1:c.1441G>A	ENSP00000506336.1:p.Gly481Ser
ENST00000680924.1:c.1441G>A	ENSP00000506031.1:p.Gly481Ser
ENST00000681135.1:c.1441G>A	ENSP00000506636.1:p.Gly481Ser
ENST00000681454.1:c.*677G>A	ENSP00000505763.1:n.*677G>A
ENST00000277541.6:c.1441G>A	ENSP00000277541.6:p.Gly481Ser
NM_017617.3:c.1441G>A	NP_060087.3:p.Gly481Ser
XM_011518717.1:c.742G>A	XP_011517019.1:p.Gly248Ser
NM_017617.5:c.1441G>A MANE Select	NP_060087.3:p.Gly481Ser
XM_011518717.2:c.718G>A	XP_011517019.2:p.Gly240Ser