Canonical Allele Identifier: CA375631445

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318206
• MyVariant Identifiers: chr9:g.139391676T>A (hg19) ; chr9:g.136497224T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497224T>A , CM000671.2:g.136497224T>A	GRCh38
NC_000009.11:g.139391676T>A , CM000671.1:g.139391676T>A	GRCh37
NC_000009.10:g.138511497T>A	NCBI36
NG_007458.1:g.53563A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6515A>T MANE Select	ENSP00000498587.1:p.Glu2172Val
ENST00000679595.1:c.*1555A>T	ENSP00000506241.1:n.*1555A>T
ENST00000679969.1:n.3111A>T
ENST00000680003.1:n.2847A>T
ENST00000680133.1:c.6401A>T	ENSP00000505319.1:p.Glu2134Val
ENST00000680218.1:c.6395A>T	ENSP00000505339.1:p.Glu2132Val
ENST00000680668.1:c.6401A>T	ENSP00000506336.1:p.Glu2134Val
ENST00000680778.1:c.4112A>T	ENSP00000506033.1:p.Glu1371Val
ENST00000680924.1:c.*3915A>T	ENSP00000506031.1:n.*3915A>T
ENST00000681135.1:c.*4124A>T	ENSP00000506636.1:n.*4124A>T
ENST00000681298.1:n.4620A>T
ENST00000681454.1:c.*5751A>T	ENSP00000505763.1:n.*5751A>T
ENST00000277541.6:c.6515A>T	ENSP00000277541.6:p.Glu2172Val
NM_017617.3:c.6515A>T	NP_060087.3:p.Glu2172Val
XM_011518717.1:c.5816A>T	XP_011517019.1:p.Glu1939Val
NM_017617.5:c.6515A>T MANE Select	NP_060087.3:p.Glu2172Val
XM_011518717.2:c.5792A>T	XP_011517019.2:p.Glu1931Val