Canonical Allele Identifier: CA3165921381

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136513049G= , CM000671.2:g.136513049G=	GRCh38
NC_000009.11:g.139407501G= , CM000671.1:g.139407501G=	GRCh37
NC_000009.10:g.138527322G=	NCBI36
NG_007458.1:g.37738C=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.2439C= MANE Select	NP_060087.3:p.Tyr813=
ENST00000651671.1:c.2439C= MANE Select	ENSP00000498587.1:p.Tyr813=
NM_017617.3:c.2439C=	NP_060087.3:p.Tyr813=
ENST00000277541.6:c.2439C=	ENSP00000277541.6:p.Tyr813=
ENST00000645828.1:n.246C=
ENST00000646957.2:n.62C=
ENST00000679595.1:c.2439C=	ENSP00000506241.1:p.Tyr813=
ENST00000680133.1:c.2325C=	ENSP00000505319.1:p.Tyr775=
ENST00000680218.1:c.2439C=	ENSP00000505339.1:p.Tyr813=
ENST00000680668.1:c.2325C=	ENSP00000506336.1:p.Tyr775=
ENST00000680924.1:c.2439C=	ENSP00000506031.1:p.Tyr813=
ENST00000681135.1:c.2439C=	ENSP00000506636.1:p.Tyr813=
ENST00000681454.1:c.*1675C=	ENSP00000505763.1:n.*1675C=
XM_011518717.1:c.1740C=	XP_011517019.1:p.Tyr580=
XM_011518717.2:c.1716C=	XP_011517019.2:p.Tyr572=