Canonical Allele Identifier: CA375634015

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321785
• MyVariant Identifiers: chr9:g.139393415T>A (hg19) ; chr9:g.136498963T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498963T>A , CM000671.2:g.136498963T>A	GRCh38
NC_000009.11:g.139393415T>A , CM000671.1:g.139393415T>A	GRCh37
NC_000009.10:g.138513236T>A	NCBI36
NG_007458.1:g.51824A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6116A>T MANE Select	ENSP00000498587.1:p.Asn2039Ile
ENST00000679595.1:c.*1156A>T	ENSP00000506241.1:n.*1156A>T
ENST00000679969.1:n.2712A>T
ENST00000680003.1:n.2448A>T
ENST00000680133.1:c.6002A>T	ENSP00000505319.1:p.Asn2001Ile
ENST00000680218.1:c.5996A>T	ENSP00000505339.1:p.Asn1999Ile
ENST00000680668.1:c.6002A>T	ENSP00000506336.1:p.Asn2001Ile
ENST00000680778.1:c.3713A>T	ENSP00000506033.1:p.Asn1238Ile
ENST00000680924.1:c.*3516A>T	ENSP00000506031.1:n.*3516A>T
ENST00000681135.1:c.*3725A>T	ENSP00000506636.1:n.*3725A>T
ENST00000681298.1:n.4221A>T
ENST00000681454.1:c.*5352A>T	ENSP00000505763.1:n.*5352A>T
ENST00000277541.6:c.6116A>T	ENSP00000277541.6:p.Asn2039Ile
NM_017617.3:c.6116A>T	NP_060087.3:p.Asn2039Ile
XM_011518717.1:c.5417A>T	XP_011517019.1:p.Asn1806Ile
NM_017617.5:c.6116A>T MANE Select	NP_060087.3:p.Asn2039Ile
XM_011518717.2:c.5393A>T	XP_011517019.2:p.Asn1798Ile