Canonical Allele Identifier: CA5340785

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136506757C>T , CM000671.2:g.136506757C>T	GRCh38
NC_000009.11:g.139401209C>T , CM000671.1:g.139401209C>T	GRCh37
NC_000009.10:g.138521030C>T	NCBI36
NG_007458.1:g.44030G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.3860G>A MANE Select	NP_060087.3:p.Arg1287His
ENST00000651671.1:c.3860G>A MANE Select	ENSP00000498587.1:p.Arg1287His
NM_017617.3:c.3860G>A	NP_060087.3:p.Arg1287His
ENST00000277541.6:c.3860G>A	ENSP00000277541.6:p.Arg1287His
ENST00000645828.1:n.1667G>A
ENST00000679595.1:c.3860G>A	ENSP00000506241.1:p.Arg1287His
ENST00000680133.1:c.3746G>A	ENSP00000505319.1:p.Arg1249His
ENST00000680218.1:c.3781+79G>A	ENSP00000505339.1:n.3781+79G>A
ENST00000680668.1:c.3746G>A	ENSP00000506336.1:p.Arg1249His
ENST00000680778.1:c.1457G>A	ENSP00000506033.1:p.Arg486His
ENST00000680924.1:c.*1260G>A	ENSP00000506031.1:n.*1260G>A
ENST00000681135.1:c.*1469G>A	ENSP00000506636.1:n.*1469G>A
ENST00000681298.1:n.673G>A
ENST00000681454.1:c.*3096G>A	ENSP00000505763.1:n.*3096G>A
XM_011518717.1:c.3161G>A	XP_011517019.1:p.Arg1054His
XM_011518717.2:c.3137G>A	XP_011517019.2:p.Arg1046His