Canonical Allele Identifier: CA375634308

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322608
• gnomAD v4: 9-136499135-T-A
• MyVariant Identifiers: chr9:g.139393587T>A (hg19) ; chr9:g.136499135T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499135T>A , CM000671.2:g.136499135T>A	GRCh38
NC_000009.11:g.139393587T>A , CM000671.1:g.139393587T>A	GRCh37
NC_000009.10:g.138513408T>A	NCBI36
NG_007458.1:g.51652A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6059A>T MANE Select	ENSP00000498587.1:p.Asp2020Val
ENST00000679595.1:c.*1099A>T	ENSP00000506241.1:n.*1099A>T
ENST00000679969.1:n.2540A>T
ENST00000680003.1:n.2391A>T
ENST00000680133.1:c.5945A>T	ENSP00000505319.1:p.Asp1982Val
ENST00000680218.1:c.5939A>T	ENSP00000505339.1:p.Asp1980Val
ENST00000680668.1:c.5945A>T	ENSP00000506336.1:p.Asp1982Val
ENST00000680778.1:c.3656A>T	ENSP00000506033.1:p.Asp1219Val
ENST00000680924.1:c.*3459A>T	ENSP00000506031.1:n.*3459A>T
ENST00000681135.1:c.*3668A>T	ENSP00000506636.1:n.*3668A>T
ENST00000681298.1:n.4164A>T
ENST00000681454.1:c.*5295A>T	ENSP00000505763.1:n.*5295A>T
ENST00000277541.6:c.6059A>T	ENSP00000277541.6:p.Asp2020Val
NM_017617.3:c.6059A>T	NP_060087.3:p.Asp2020Val
XM_011518717.1:c.5360A>T	XP_011517019.1:p.Asp1787Val
NM_017617.5:c.6059A>T MANE Select	NP_060087.3:p.Asp2020Val
XM_011518717.2:c.5336A>T	XP_011517019.2:p.Asp1779Val