Canonical Allele Identifier: CA375634270

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322563
• COSMIC: COSM5674665 ; COSM5674666
• MyVariant Identifiers: chr9:g.139393578G>A (hg19) ; chr9:g.136499126G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6068C>T MANE Select	ENSP00000498587.1:p.Ala2023Val
ENST00000679595.1:c.*1108C>T	ENSP00000506241.1:n.*1108C>T
ENST00000679969.1:n.2549C>T
ENST00000680003.1:n.2400C>T
ENST00000680133.1:c.5954C>T	ENSP00000505319.1:p.Ala1985Val
ENST00000680218.1:c.5948C>T	ENSP00000505339.1:p.Ala1983Val
ENST00000680668.1:c.5954C>T	ENSP00000506336.1:p.Ala1985Val
ENST00000680778.1:c.3665C>T	ENSP00000506033.1:p.Ala1222Val
ENST00000680924.1:c.*3468C>T	ENSP00000506031.1:n.*3468C>T
ENST00000681135.1:c.*3677C>T	ENSP00000506636.1:n.*3677C>T
ENST00000681298.1:n.4173C>T
ENST00000681454.1:c.*5304C>T	ENSP00000505763.1:n.*5304C>T
ENST00000277541.6:c.6068C>T	ENSP00000277541.6:p.Ala2023Val
NM_017617.3:c.6068C>T	NP_060087.3:p.Ala2023Val
XM_011518717.1:c.5369C>T	XP_011517019.1:p.Ala1790Val
NM_017617.5:c.6068C>T MANE Select	NP_060087.3:p.Ala2023Val
XM_011518717.2:c.5345C>T	XP_011517019.2:p.Ala1782Val