Canonical Allele Identifier: CA5341843

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1007757
• ClinVar RCV Id: RCV001304984 ; RCV002447307
• dbSNP Id: rs762533002
• ExAC: 9:139412379 G / C
• gnomAD v2: 9-139412379-G-C
• gnomAD v3: 9-136517927-G-C
• gnomAD v4: 9-136517927-G-C
• MyVariant Identifiers: chr9:g.139412379G>C (hg19) ; chr9:g.136517927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517927G>C , CM000671.2:g.136517927G>C	GRCh38
NC_000009.11:g.139412379G>C , CM000671.1:g.139412379G>C	GRCh37
NC_000009.10:g.138532200G>C	NCBI36
NG_007458.1:g.32860C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1266C>G MANE Select	ENSP00000498587.1:p.Pro422=
ENST00000679595.1:c.1266C>G	ENSP00000506241.1:p.Pro422=
ENST00000680133.1:c.1266C>G	ENSP00000505319.1:p.Pro422=
ENST00000680218.1:c.1266C>G	ENSP00000505339.1:p.Pro422=
ENST00000680668.1:c.1266C>G	ENSP00000506336.1:p.Pro422=
ENST00000680924.1:c.1266C>G	ENSP00000506031.1:p.Pro422=
ENST00000681135.1:c.1266C>G	ENSP00000506636.1:p.Pro422=
ENST00000681454.1:c.*502C>G	ENSP00000505763.1:n.*502C>G
ENST00000277541.6:c.1266C>G	ENSP00000277541.6:p.Pro422=
NM_017617.3:c.1266C>G	NP_060087.3:p.Pro422=
XM_011518717.1:c.567C>G	XP_011517019.1:p.Pro189=
NM_017617.5:c.1266C>G MANE Select	NP_060087.3:p.Pro422=
XM_011518717.2:c.543C>G	XP_011517019.2:p.Pro181=