Canonical Allele Identifier: CA1884231413

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497391G= , CM000671.2:g.136497391G=	GRCh38
NC_000009.11:g.139391843G= , CM000671.1:g.139391843G=	GRCh37
NC_000009.10:g.138511664G=	NCBI36
NG_007458.1:g.53396C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6348C= MANE Select	ENSP00000498587.1:p.Tyr2116=
ENST00000679595.1:c.*1388C=	ENSP00000506241.1:n.*1388C=
ENST00000679969.1:n.2944C=
ENST00000680003.1:n.2680C=
ENST00000680133.1:c.6234C=	ENSP00000505319.1:p.Tyr2078=
ENST00000680218.1:c.6228C=	ENSP00000505339.1:p.Tyr2076=
ENST00000680668.1:c.6234C=	ENSP00000506336.1:p.Tyr2078=
ENST00000680778.1:c.3945C=	ENSP00000506033.1:p.Tyr1315=
ENST00000680924.1:c.*3748C=	ENSP00000506031.1:n.*3748C=
ENST00000681135.1:c.*3957C=	ENSP00000506636.1:n.*3957C=
ENST00000681298.1:n.4453C=
ENST00000681454.1:c.*5584C=	ENSP00000505763.1:n.*5584C=
ENST00000277541.6:c.6348C=	ENSP00000277541.6:p.Tyr2116=
NM_017617.3:c.6348C=	NP_060087.3:p.Tyr2116=
XM_011518717.1:c.5649C=	XP_011517019.1:p.Tyr1883=
NM_017617.5:c.6348C= MANE Select	NP_060087.3:p.Tyr2116=
XM_011518717.2:c.5625C=	XP_011517019.2:p.Tyr1875=