Canonical Allele Identifier: CA5339677

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1125870
• ClinVar RCV Id: RCV001457707 ; RCV002384719
• dbSNP Id: rs371306178
• ExAC: 9:139390790 C / T
• gnomAD v2: 9-139390790-C-T
• gnomAD v3: 9-136496338-C-T
• gnomAD v4: 9-136496338-C-T
• MyVariant Identifiers: chr9:g.139390790C>T (hg19) ; chr9:g.136496338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136496338C>T , CM000671.2:g.136496338C>T	GRCh38
NC_000009.11:g.139390790C>T , CM000671.1:g.139390790C>T	GRCh37
NC_000009.10:g.138510611C>T	NCBI36
NG_007458.1:g.54449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.7401G>A MANE Select	ENSP00000498587.1:p.Ser2467=
ENST00000679595.1:c.*2441G>A	ENSP00000506241.1:n.*2441G>A
ENST00000679969.1:n.3997G>A
ENST00000680003.1:n.3733G>A
ENST00000680133.1:c.7287G>A	ENSP00000505319.1:p.Ser2429=
ENST00000680218.1:c.7281G>A	ENSP00000505339.1:p.Ser2427=
ENST00000680668.1:c.7287G>A	ENSP00000506336.1:p.Ser2429=
ENST00000680778.1:c.4998G>A	ENSP00000506033.1:p.Ser1666=
ENST00000680924.1:c.*4801G>A	ENSP00000506031.1:n.*4801G>A
ENST00000681135.1:c.*5010G>A	ENSP00000506636.1:n.*5010G>A
ENST00000681298.1:n.5506G>A
ENST00000681454.1:c.*6637G>A	ENSP00000505763.1:n.*6637G>A
ENST00000277541.6:c.7401G>A	ENSP00000277541.6:p.Ser2467=
NM_017617.3:c.7401G>A	NP_060087.3:p.Ser2467=
XM_011518717.1:c.6702G>A	XP_011517019.1:p.Ser2234=
NM_017617.5:c.7401G>A MANE Select	NP_060087.3:p.Ser2467=
XM_011518717.2:c.6678G>A	XP_011517019.2:p.Ser2226=