Canonical Allele Identifier: CA2721107032

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322076

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499020T>A , CM000671.2:g.136499020T>A	GRCh38
NC_000009.11:g.139393472T>A , CM000671.1:g.139393472T>A	GRCh37
NC_000009.10:g.138513293T>A	NCBI36
NG_007458.1:g.51767A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6083-24A>T MANE Select	ENSP00000498587.1:n.6083-24A>T
ENST00000679595.1:c.*1123-24A>T	ENSP00000506241.1:n.*1123-24A>T
ENST00000679969.1:n.2655A>T
ENST00000680003.1:n.2415-24A>T
ENST00000680133.1:c.5969-24A>T	ENSP00000505319.1:n.5969-24A>T
ENST00000680218.1:c.5963-24A>T	ENSP00000505339.1:n.5963-24A>T
ENST00000680668.1:c.5969-24A>T	ENSP00000506336.1:n.5969-24A>T
ENST00000680778.1:c.3680-24A>T	ENSP00000506033.1:n.3680-24A>T
ENST00000680924.1:c.*3483-24A>T	ENSP00000506031.1:n.*3483-24A>T
ENST00000681135.1:c.*3692-24A>T	ENSP00000506636.1:n.*3692-24A>T
ENST00000681298.1:n.4188-24A>T
ENST00000681454.1:c.*5319-24A>T	ENSP00000505763.1:n.*5319-24A>T
ENST00000277541.6:c.6083-24A>T	ENSP00000277541.6:n.6083-24A>T
NM_017617.3:c.6083-24A>T	NP_060087.3:n.6083-24A>T
XM_011518717.1:c.5384-24A>T	XP_011517019.1:n.5384-24A>T
NM_017617.5:c.6083-24A>T MANE Select	NP_060087.3:n.6083-24A>T
XM_011518717.2:c.5360-24A>T	XP_011517019.2:n.5360-24A>T