Canonical Allele Identifier: CA161189

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136506527C>T , CM000671.2:g.136506527C>T	GRCh38
NC_000009.11:g.139400979C>T , CM000671.1:g.139400979C>T	GRCh37
NC_000009.10:g.138520800C>T	NCBI36
NG_007458.1:g.44260G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.4014G>A MANE Select	NP_060087.3:p.Ala1338=
ENST00000651671.1:c.4014G>A MANE Select	ENSP00000498587.1:p.Ala1338=
NM_017617.3:c.4014G>A	NP_060087.3:p.Ala1338=
ENST00000277541.6:c.4014G>A	ENSP00000277541.6:p.Ala1338=
ENST00000645828.1:n.1821G>A
ENST00000679595.1:c.4014G>A	ENSP00000506241.1:p.Ala1338=
ENST00000680133.1:c.3900G>A	ENSP00000505319.1:p.Ala1300=
ENST00000680218.1:c.3894G>A	ENSP00000505339.1:p.Ala1298=
ENST00000680668.1:c.3900G>A	ENSP00000506336.1:p.Ala1300=
ENST00000680778.1:c.1611G>A	ENSP00000506033.1:p.Ala537=
ENST00000680924.1:c.*1414G>A	ENSP00000506031.1:n.*1414G>A
ENST00000681135.1:c.*1623G>A	ENSP00000506636.1:n.*1623G>A
ENST00000681298.1:n.827G>A
ENST00000681454.1:c.*3250G>A	ENSP00000505763.1:n.*3250G>A
XM_011518717.1:c.3315G>A	XP_011517019.1:p.Ala1105=
XM_011518717.2:c.3291G>A	XP_011517019.2:p.Ala1097=