Canonical Allele Identifier: CA5341549

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 264541
• ClinVar RCV Id: RCV000555279 ; RCV000519623 ; RCV001535730 ; RCV002272196 ; RCV002311210 ; RCV002285156
• dbSNP Id: rs201077220
• ExAC: 9:139409775 C / T
• gnomAD v2: 9-139409775-C-T
• gnomAD v3: 9-136515323-C-T
• gnomAD v4: 9-136515323-C-T
• MyVariant Identifiers: chr9:g.139409775C>T (hg19) ; chr9:g.136515323C>T (hg38)
• PubMed: PMID:18593716 ; PMID:20951801

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136515323C>T , CM000671.2:g.136515323C>T	GRCh38
NC_000009.11:g.139409775C>T , CM000671.1:g.139409775C>T	GRCh37
NC_000009.10:g.138529596C>T	NCBI36
NG_007458.1:g.35464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1981G>A MANE Select	ENSP00000498587.1:p.Gly661Ser
ENST00000679595.1:c.1981G>A	ENSP00000506241.1:p.Gly661Ser
ENST00000680133.1:c.1867G>A	ENSP00000505319.1:p.Gly623Ser
ENST00000680218.1:c.1981G>A	ENSP00000505339.1:p.Gly661Ser
ENST00000680668.1:c.1867G>A	ENSP00000506336.1:p.Gly623Ser
ENST00000680924.1:c.1981G>A	ENSP00000506031.1:p.Gly661Ser
ENST00000681135.1:c.1981G>A	ENSP00000506636.1:p.Gly661Ser
ENST00000681454.1:c.*1217G>A	ENSP00000505763.1:n.*1217G>A
ENST00000277541.6:c.1981G>A	ENSP00000277541.6:p.Gly661Ser
NM_017617.3:c.1981G>A	NP_060087.3:p.Gly661Ser
XM_011518717.1:c.1282G>A	XP_011517019.1:p.Gly428Ser
NM_017617.5:c.1981G>A MANE Select	NP_060087.3:p.Gly661Ser
XM_011518717.2:c.1258G>A	XP_011517019.2:p.Gly420Ser