Canonical Allele Identifier: CA5341288

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 999913
• ClinVar RCV Id: RCV001295971
• dbSNP Id: rs775954717
• ExAC: 9:139405694 A / T
• gnomAD v2: 9-139405694-A-T
• gnomAD v3: 9-136511242-A-T
• gnomAD v4: 9-136511242-A-T
• MyVariant Identifiers: chr9:g.139405694A>T (hg19) ; chr9:g.136511242A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511242A>T , CM000671.2:g.136511242A>T	GRCh38
NC_000009.11:g.139405694A>T , CM000671.1:g.139405694A>T	GRCh37
NC_000009.10:g.138525515A>T	NCBI36
NG_007458.1:g.39545T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.304T>A
ENST00000646957.2:n.120T>A
ENST00000651671.1:c.2497T>A MANE Select	ENSP00000498587.1:p.Cys833Ser
ENST00000679595.1:c.2497T>A	ENSP00000506241.1:p.Cys833Ser
ENST00000680133.1:c.2383T>A	ENSP00000505319.1:p.Cys795Ser
ENST00000680218.1:c.2497T>A	ENSP00000505339.1:p.Cys833Ser
ENST00000680668.1:c.2383T>A	ENSP00000506336.1:p.Cys795Ser
ENST00000680778.1:c.94T>A	ENSP00000506033.1:p.Cys32Ser
ENST00000680924.1:c.2497T>A	ENSP00000506031.1:p.Cys833Ser
ENST00000681135.1:c.*106T>A	ENSP00000506636.1:n.*106T>A
ENST00000681454.1:c.*1733T>A	ENSP00000505763.1:n.*1733T>A
ENST00000277541.6:c.2497T>A	ENSP00000277541.6:p.Cys833Ser
NM_017617.3:c.2497T>A	NP_060087.3:p.Cys833Ser
XM_011518717.1:c.1798T>A	XP_011517019.1:p.Cys600Ser
NM_017617.5:c.2497T>A MANE Select	NP_060087.3:p.Cys833Ser
XM_011518717.2:c.1774T>A	XP_011517019.2:p.Cys592Ser