Canonical Allele Identifier: CA375633975

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393406T>A (hg19) ; chr9:g.136498954T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498954T>A , CM000671.2:g.136498954T>A	GRCh38
NC_000009.11:g.139393406T>A , CM000671.1:g.139393406T>A	GRCh37
NC_000009.10:g.138513227T>A	NCBI36
NG_007458.1:g.51833A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6125A>T MANE Select	ENSP00000498587.1:p.Asp2042Val
ENST00000679595.1:c.*1165A>T	ENSP00000506241.1:n.*1165A>T
ENST00000679969.1:n.2721A>T
ENST00000680003.1:n.2457A>T
ENST00000680133.1:c.6011A>T	ENSP00000505319.1:p.Asp2004Val
ENST00000680218.1:c.6005A>T	ENSP00000505339.1:p.Asp2002Val
ENST00000680668.1:c.6011A>T	ENSP00000506336.1:p.Asp2004Val
ENST00000680778.1:c.3722A>T	ENSP00000506033.1:p.Asp1241Val
ENST00000680924.1:c.*3525A>T	ENSP00000506031.1:n.*3525A>T
ENST00000681135.1:c.*3734A>T	ENSP00000506636.1:n.*3734A>T
ENST00000681298.1:n.4230A>T
ENST00000681454.1:c.*5361A>T	ENSP00000505763.1:n.*5361A>T
ENST00000277541.6:c.6125A>T	ENSP00000277541.6:p.Asp2042Val
NM_017617.3:c.6125A>T	NP_060087.3:p.Asp2042Val
XM_011518717.1:c.5426A>T	XP_011517019.1:p.Asp1809Val
NM_017617.5:c.6125A>T MANE Select	NP_060087.3:p.Asp2042Val
XM_011518717.2:c.5402A>T	XP_011517019.2:p.Asp1801Val