Canonical Allele Identifier: CA467832288

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842930688
• MyVariant Identifiers: chr9:g.139391639C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497187C>T , CM000671.2:g.136497187C>T	GRCh38
NC_000009.11:g.139391639C>T , CM000671.1:g.139391639C>T	GRCh37
NC_000009.10:g.138511460C>T	NCBI36
NG_007458.1:g.53600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6552G>A MANE Select	ENSP00000498587.1:p.Gln2184=
ENST00000679595.1:c.*1592G>A	ENSP00000506241.1:n.*1592G>A
ENST00000679969.1:n.3148G>A
ENST00000680003.1:n.2884G>A
ENST00000680133.1:c.6438G>A	ENSP00000505319.1:p.Gln2146=
ENST00000680218.1:c.6432G>A	ENSP00000505339.1:p.Gln2144=
ENST00000680668.1:c.6438G>A	ENSP00000506336.1:p.Gln2146=
ENST00000680778.1:c.4149G>A	ENSP00000506033.1:p.Gln1383=
ENST00000680924.1:c.*3952G>A	ENSP00000506031.1:n.*3952G>A
ENST00000681135.1:c.*4161G>A	ENSP00000506636.1:n.*4161G>A
ENST00000681298.1:n.4657G>A
ENST00000681454.1:c.*5788G>A	ENSP00000505763.1:n.*5788G>A
ENST00000277541.6:c.6552G>A	ENSP00000277541.6:p.Gln2184=
NM_017617.3:c.6552G>A	NP_060087.3:p.Gln2184=
XM_011518717.1:c.5853G>A	XP_011517019.1:p.Gln1951=
NM_017617.5:c.6552G>A MANE Select	NP_060087.3:p.Gln2184=
XM_011518717.2:c.5829G>A	XP_011517019.2:p.Gln1943=