Canonical Allele Identifier: CA375634274

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322563
• MyVariant Identifiers: chr9:g.139393578G>T (hg19) ; chr9:g.136499126G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499126G>T , CM000671.2:g.136499126G>T	GRCh38
NC_000009.11:g.139393578G>T , CM000671.1:g.139393578G>T	GRCh37
NC_000009.10:g.138513399G>T	NCBI36
NG_007458.1:g.51661C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6068C>A MANE Select	ENSP00000498587.1:p.Ala2023Asp
ENST00000679595.1:c.*1108C>A	ENSP00000506241.1:n.*1108C>A
ENST00000679969.1:n.2549C>A
ENST00000680003.1:n.2400C>A
ENST00000680133.1:c.5954C>A	ENSP00000505319.1:p.Ala1985Asp
ENST00000680218.1:c.5948C>A	ENSP00000505339.1:p.Ala1983Asp
ENST00000680668.1:c.5954C>A	ENSP00000506336.1:p.Ala1985Asp
ENST00000680778.1:c.3665C>A	ENSP00000506033.1:p.Ala1222Asp
ENST00000680924.1:c.*3468C>A	ENSP00000506031.1:n.*3468C>A
ENST00000681135.1:c.*3677C>A	ENSP00000506636.1:n.*3677C>A
ENST00000681298.1:n.4173C>A
ENST00000681454.1:c.*5304C>A	ENSP00000505763.1:n.*5304C>A
ENST00000277541.6:c.6068C>A	ENSP00000277541.6:p.Ala2023Asp
NM_017617.3:c.6068C>A	NP_060087.3:p.Ala2023Asp
XM_011518717.1:c.5369C>A	XP_011517019.1:p.Ala1790Asp
NM_017617.5:c.6068C>A MANE Select	NP_060087.3:p.Ala2023Asp
XM_011518717.2:c.5345C>A	XP_011517019.2:p.Ala1782Asp