Canonical Allele Identifier: CA5341824

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2170058
• ClinVar RCV Id: RCV003088507
• dbSNP Id: rs769569937
• ExAC: 9:139412272 G / A
• gnomAD v2: 9-139412272-G-A
• gnomAD v3: 9-136517820-G-A
• gnomAD v4: 9-136517820-G-A
• COSMIC: COSM3722796 ; COSM3722797
• MyVariant Identifiers: chr9:g.139412272G>A (hg19) ; chr9:g.136517820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517820G>A , CM000671.2:g.136517820G>A	GRCh38
NC_000009.11:g.139412272G>A , CM000671.1:g.139412272G>A	GRCh37
NC_000009.10:g.138532093G>A	NCBI36
NG_007458.1:g.32967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1373C>T MANE Select	ENSP00000498587.1:p.Ser458Leu
ENST00000679595.1:c.1373C>T	ENSP00000506241.1:p.Ser458Leu
ENST00000680133.1:c.1373C>T	ENSP00000505319.1:p.Ser458Leu
ENST00000680218.1:c.1373C>T	ENSP00000505339.1:p.Ser458Leu
ENST00000680668.1:c.1373C>T	ENSP00000506336.1:p.Ser458Leu
ENST00000680924.1:c.1373C>T	ENSP00000506031.1:p.Ser458Leu
ENST00000681135.1:c.1373C>T	ENSP00000506636.1:p.Ser458Leu
ENST00000681454.1:c.*609C>T	ENSP00000505763.1:n.*609C>T
ENST00000277541.6:c.1373C>T	ENSP00000277541.6:p.Ser458Leu
NM_017617.3:c.1373C>T	NP_060087.3:p.Ser458Leu
XM_011518717.1:c.674C>T	XP_011517019.1:p.Ser225Leu
NM_017617.5:c.1373C>T MANE Select	NP_060087.3:p.Ser458Leu
XM_011518717.2:c.650C>T	XP_011517019.2:p.Ser217Leu