Canonical Allele Identifier: CA467832716

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1322054624
• MyVariant Identifiers: chr9:g.139399313T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504861T>A , CM000671.2:g.136504861T>A	GRCh38
NC_000009.11:g.139399313T>A , CM000671.1:g.139399313T>A	GRCh37
NC_000009.10:g.138519134T>A	NCBI36
NG_007458.1:g.45926A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2637A>T
ENST00000651671.1:c.4830A>T MANE Select	ENSP00000498587.1:p.Ala1610=
ENST00000679595.1:c.4830A>T	ENSP00000506241.1:p.Ala1610=
ENST00000680133.1:c.4716A>T	ENSP00000505319.1:p.Ala1572=
ENST00000680218.1:c.4710A>T	ENSP00000505339.1:p.Ala1570=
ENST00000680668.1:c.4716A>T	ENSP00000506336.1:p.Ala1572=
ENST00000680778.1:c.2427A>T	ENSP00000506033.1:p.Ala809=
ENST00000680924.1:c.*2230A>T	ENSP00000506031.1:n.*2230A>T
ENST00000681135.1:c.*2439A>T	ENSP00000506636.1:n.*2439A>T
ENST00000681298.1:n.1643A>T
ENST00000681454.1:c.*4066A>T	ENSP00000505763.1:n.*4066A>T
ENST00000277541.6:c.4830A>T	ENSP00000277541.6:p.Ala1610=
NM_017617.3:c.4830A>T	NP_060087.3:p.Ala1610=
XM_011518717.1:c.4131A>T	XP_011517019.1:p.Ala1377=
NM_017617.5:c.4830A>T MANE Select	NP_060087.3:p.Ala1610=
XM_011518717.2:c.4107A>T	XP_011517019.2:p.Ala1369=