Canonical Allele Identifier: CA467738529

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393610C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499158C>T , CM000671.2:g.136499158C>T	GRCh38
NC_000009.11:g.139393610C>T , CM000671.1:g.139393610C>T	GRCh37
NC_000009.10:g.138513431C>T	NCBI36
NG_007458.1:g.51629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6036G>A MANE Select	ENSP00000498587.1:p.Glu2012=
ENST00000679595.1:c.*1076G>A	ENSP00000506241.1:n.*1076G>A
ENST00000679969.1:n.2517G>A
ENST00000680003.1:n.2368G>A
ENST00000680133.1:c.5922G>A	ENSP00000505319.1:p.Glu1974=
ENST00000680218.1:c.5916G>A	ENSP00000505339.1:p.Glu1972=
ENST00000680668.1:c.5922G>A	ENSP00000506336.1:p.Glu1974=
ENST00000680778.1:c.3633G>A	ENSP00000506033.1:p.Glu1211=
ENST00000680924.1:c.*3436G>A	ENSP00000506031.1:n.*3436G>A
ENST00000681135.1:c.*3645G>A	ENSP00000506636.1:n.*3645G>A
ENST00000681298.1:n.4141G>A
ENST00000681454.1:c.*5272G>A	ENSP00000505763.1:n.*5272G>A
ENST00000277541.6:c.6036G>A	ENSP00000277541.6:p.Glu2012=
NM_017617.3:c.6036G>A	NP_060087.3:p.Glu2012=
XM_011518717.1:c.5337G>A	XP_011517019.1:p.Glu1779=
NM_017617.5:c.6036G>A MANE Select	NP_060087.3:p.Glu2012=
XM_011518717.2:c.5313G>A	XP_011517019.2:p.Glu1771=