Canonical Allele Identifier: CA5339668

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 415405
• ClinVar RCV Id: RCV000459622 ; RCV000610441 ; RCV001721528 ; RCV002313217 ; RCV002270532
• dbSNP Id: rs375728200
• ExAC: 9:139390742 C / T
• gnomAD v2: 9-139390742-C-T
• gnomAD v3: 9-136496290-C-T
• gnomAD v4: 9-136496290-C-T
• MyVariant Identifiers: chr9:g.139390742C>T (hg19) ; chr9:g.136496290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136496290C>T , CM000671.2:g.136496290C>T	GRCh38
NC_000009.11:g.139390742C>T , CM000671.1:g.139390742C>T	GRCh37
NC_000009.10:g.138510563C>T	NCBI36
NG_007458.1:g.54497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.7449G>A MANE Select	ENSP00000498587.1:p.Thr2483=
ENST00000679595.1:c.*2489G>A	ENSP00000506241.1:n.*2489G>A
ENST00000679969.1:n.4045G>A
ENST00000680003.1:n.3781G>A
ENST00000680133.1:c.7335G>A	ENSP00000505319.1:p.Thr2445=
ENST00000680218.1:c.7329G>A	ENSP00000505339.1:p.Thr2443=
ENST00000680668.1:c.7335G>A	ENSP00000506336.1:p.Thr2445=
ENST00000680778.1:c.5046G>A	ENSP00000506033.1:p.Thr1682=
ENST00000680924.1:c.*4849G>A	ENSP00000506031.1:n.*4849G>A
ENST00000681135.1:c.*5058G>A	ENSP00000506636.1:n.*5058G>A
ENST00000681298.1:n.5554G>A
ENST00000681454.1:c.*6685G>A	ENSP00000505763.1:n.*6685G>A
ENST00000277541.6:c.7449G>A	ENSP00000277541.6:p.Thr2483=
NM_017617.3:c.7449G>A	NP_060087.3:p.Thr2483=
XM_011518717.1:c.6750G>A	XP_011517019.1:p.Thr2250=
NM_017617.5:c.7449G>A MANE Select	NP_060087.3:p.Thr2483=
XM_011518717.2:c.6726G>A	XP_011517019.2:p.Thr2242=