Canonical Allele Identifier: CA375631927

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391841T>A (hg19) ; chr9:g.136497389T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497389T>A , CM000671.2:g.136497389T>A	GRCh38
NC_000009.11:g.139391841T>A , CM000671.1:g.139391841T>A	GRCh37
NC_000009.10:g.138511662T>A	NCBI36
NG_007458.1:g.53398A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6350A>T MANE Select	ENSP00000498587.1:p.Asn2117Ile
ENST00000679595.1:c.*1390A>T	ENSP00000506241.1:n.*1390A>T
ENST00000679969.1:n.2946A>T
ENST00000680003.1:n.2682A>T
ENST00000680133.1:c.6236A>T	ENSP00000505319.1:p.Asn2079Ile
ENST00000680218.1:c.6230A>T	ENSP00000505339.1:p.Asn2077Ile
ENST00000680668.1:c.6236A>T	ENSP00000506336.1:p.Asn2079Ile
ENST00000680778.1:c.3947A>T	ENSP00000506033.1:p.Asn1316Ile
ENST00000680924.1:c.*3750A>T	ENSP00000506031.1:n.*3750A>T
ENST00000681135.1:c.*3959A>T	ENSP00000506636.1:n.*3959A>T
ENST00000681298.1:n.4455A>T
ENST00000681454.1:c.*5586A>T	ENSP00000505763.1:n.*5586A>T
ENST00000277541.6:c.6350A>T	ENSP00000277541.6:p.Asn2117Ile
NM_017617.3:c.6350A>T	NP_060087.3:p.Asn2117Ile
XM_011518717.1:c.5651A>T	XP_011517019.1:p.Asn1884Ile
NM_017617.5:c.6350A>T MANE Select	NP_060087.3:p.Asn2117Ile
XM_011518717.2:c.5627A>T	XP_011517019.2:p.Asn1876Ile