Canonical Allele Identifier: CA467832767

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399370G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504918G>A , CM000671.2:g.136504918G>A	GRCh38
NC_000009.11:g.139399370G>A , CM000671.1:g.139399370G>A	GRCh37
NC_000009.10:g.138519191G>A	NCBI36
NG_007458.1:g.45869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2580C>T
ENST00000651671.1:c.4773C>T MANE Select	ENSP00000498587.1:p.His1591=
ENST00000679595.1:c.4773C>T	ENSP00000506241.1:p.His1591=
ENST00000680133.1:c.4659C>T	ENSP00000505319.1:p.His1553=
ENST00000680218.1:c.4653C>T	ENSP00000505339.1:p.His1551=
ENST00000680668.1:c.4659C>T	ENSP00000506336.1:p.His1553=
ENST00000680778.1:c.2370C>T	ENSP00000506033.1:p.His790=
ENST00000680924.1:c.*2173C>T	ENSP00000506031.1:n.*2173C>T
ENST00000681135.1:c.*2382C>T	ENSP00000506636.1:n.*2382C>T
ENST00000681298.1:n.1586C>T
ENST00000681454.1:c.*4009C>T	ENSP00000505763.1:n.*4009C>T
ENST00000277541.6:c.4773C>T	ENSP00000277541.6:p.His1591=
NM_017617.3:c.4773C>T	NP_060087.3:p.His1591=
XM_011518717.1:c.4074C>T	XP_011517019.1:p.His1358=
NM_017617.5:c.4773C>T MANE Select	NP_060087.3:p.His1591=
XM_011518717.2:c.4050C>T	XP_011517019.2:p.His1350=