Canonical Allele Identifier: CA13117184

Gene: NOTCH1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136495945C>T , CM000671.2:g.136495945C>T	GRCh38
NC_000009.11:g.139390397C>T , CM000671.1:g.139390397C>T	GRCh37
NC_000009.10:g.138510218C>T	NCBI36
NG_007458.1:g.54842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.*126G>A MANE Select	ENSP00000498587.1:n.*126G>A
ENST00000679595.1:c.*2834G>A	ENSP00000506241.1:n.*2834G>A
ENST00000679969.1:n.4390G>A
ENST00000680003.1:n.4126G>A
ENST00000680133.1:c.*126G>A	ENSP00000505319.1:n.*126G>A
ENST00000680218.1:c.*126G>A	ENSP00000505339.1:n.*126G>A
ENST00000680668.1:c.*126G>A	ENSP00000506336.1:n.*126G>A
ENST00000680778.1:c.*126G>A	ENSP00000506033.1:n.*126G>A
ENST00000680924.1:c.*5194G>A	ENSP00000506031.1:n.*5194G>A
ENST00000681135.1:c.*5403G>A	ENSP00000506636.1:n.*5403G>A
ENST00000681298.1:n.5899G>A
ENST00000681454.1:c.*7030G>A	ENSP00000505763.1:n.*7030G>A
ENST00000277541.6:c.*126G>A	ENSP00000277541.6:n.*126G>A
NM_017617.3:c.7794G>A	NP_060087.3:n.7794G>A
XM_011518717.1:c.*126G>A	XP_011517019.1:n.*126G>A
NM_017617.5:c.*126G>A MANE Select	NP_060087.3:n.*126G>A
XM_011518717.2:c.*126G>A	XP_011517019.2:n.*126G>A