Canonical Allele Identifier: CA375634418

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393611T>A (hg19) ; chr9:g.136499159T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499159T>A , CM000671.2:g.136499159T>A	GRCh38
NC_000009.11:g.139393611T>A , CM000671.1:g.139393611T>A	GRCh37
NC_000009.10:g.138513432T>A	NCBI36
NG_007458.1:g.51628A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6035A>T MANE Select	ENSP00000498587.1:p.Glu2012Val
ENST00000679595.1:c.*1075A>T	ENSP00000506241.1:n.*1075A>T
ENST00000679969.1:n.2516A>T
ENST00000680003.1:n.2367A>T
ENST00000680133.1:c.5921A>T	ENSP00000505319.1:p.Glu1974Val
ENST00000680218.1:c.5915A>T	ENSP00000505339.1:p.Glu1972Val
ENST00000680668.1:c.5921A>T	ENSP00000506336.1:p.Glu1974Val
ENST00000680778.1:c.3632A>T	ENSP00000506033.1:p.Glu1211Val
ENST00000680924.1:c.*3435A>T	ENSP00000506031.1:n.*3435A>T
ENST00000681135.1:c.*3644A>T	ENSP00000506636.1:n.*3644A>T
ENST00000681298.1:n.4140A>T
ENST00000681454.1:c.*5271A>T	ENSP00000505763.1:n.*5271A>T
ENST00000277541.6:c.6035A>T	ENSP00000277541.6:p.Glu2012Val
NM_017617.3:c.6035A>T	NP_060087.3:p.Glu2012Val
XM_011518717.1:c.5336A>T	XP_011517019.1:p.Glu1779Val
NM_017617.5:c.6035A>T MANE Select	NP_060087.3:p.Glu2012Val
XM_011518717.2:c.5312A>T	XP_011517019.2:p.Glu1771Val