Canonical Allele Identifier: CA5339694

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 241167
• ClinVar RCV Id: RCV000231798 ; RCV000601328 ; RCV002270063 ; RCV002313956 ; RCV004532951
• dbSNP Id: rs35320927
• ExAC: 9:139390853 C / T
• gnomAD v2: 9-139390853-C-T
• gnomAD v3: 9-136496401-C-T
• gnomAD v4: 9-136496401-C-T
• MyVariant Identifiers: chr9:g.139390853C>T (hg19) ; chr9:g.136496401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136496401C>T , CM000671.2:g.136496401C>T	GRCh38
NC_000009.11:g.139390853C>T , CM000671.1:g.139390853C>T	GRCh37
NC_000009.10:g.138510674C>T	NCBI36
NG_007458.1:g.54386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.7338G>A MANE Select	ENSP00000498587.1:p.Leu2446=
ENST00000679595.1:c.*2378G>A	ENSP00000506241.1:n.*2378G>A
ENST00000679969.1:n.3934G>A
ENST00000680003.1:n.3670G>A
ENST00000680133.1:c.7224G>A	ENSP00000505319.1:p.Leu2408=
ENST00000680218.1:c.7218G>A	ENSP00000505339.1:p.Leu2406=
ENST00000680668.1:c.7224G>A	ENSP00000506336.1:p.Leu2408=
ENST00000680778.1:c.4935G>A	ENSP00000506033.1:p.Leu1645=
ENST00000680924.1:c.*4738G>A	ENSP00000506031.1:n.*4738G>A
ENST00000681135.1:c.*4947G>A	ENSP00000506636.1:n.*4947G>A
ENST00000681298.1:n.5443G>A
ENST00000681454.1:c.*6574G>A	ENSP00000505763.1:n.*6574G>A
ENST00000277541.6:c.7338G>A	ENSP00000277541.6:p.Leu2446=
NM_017617.3:c.7338G>A	NP_060087.3:p.Leu2446=
XM_011518717.1:c.6639G>A	XP_011517019.1:p.Leu2213=
NM_017617.5:c.7338G>A MANE Select	NP_060087.3:p.Leu2446=
XM_011518717.2:c.6615G>A	XP_011517019.2:p.Leu2205=