Canonical Allele Identifier: CA5342134

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136523065C>T , CM000671.2:g.136523065C>T	GRCh38
NC_000009.11:g.139417517C>T , CM000671.1:g.139417517C>T	GRCh37
NC_000009.10:g.138537338C>T	NCBI36
NG_007458.1:g.27722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491649.2:n.306G>A
ENST00000651671.1:c.527G>A MANE Select	ENSP00000498587.1:p.Arg176Gln
ENST00000679595.1:c.527G>A	ENSP00000506241.1:p.Arg176Gln
ENST00000680133.1:c.527G>A	ENSP00000505319.1:p.Arg176Gln
ENST00000680218.1:c.527G>A	ENSP00000505339.1:p.Arg176Gln
ENST00000680668.1:c.527G>A	ENSP00000506336.1:p.Arg176Gln
ENST00000680924.1:c.527G>A	ENSP00000506031.1:p.Arg176Gln
ENST00000681135.1:c.527G>A	ENSP00000506636.1:p.Arg176Gln
ENST00000681454.1:c.141-3500G>A	ENSP00000505763.1:n.141-3500G>A
ENST00000277541.6:c.527G>A	ENSP00000277541.6:p.Arg176Gln
ENST00000491649.1:n.306G>A
NM_017617.3:c.527G>A	NP_060087.3:p.Arg176Gln
XM_011518717.1:c.44-3500G>A	XP_011517019.1:n.44-3500G>A
NM_017617.5:c.527G>A MANE Select	NP_060087.3:p.Arg176Gln
XM_011518717.2:c.20-3500G>A	XP_011517019.2:n.20-3500G>A