Allele Registry

Canonical Allele Identifier: CA345932

Gene: NOTCH1 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr9:g.136519566C>A

GRCh37 chr9:g.139414018C>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000144234

ClinVar Variation:

156213

dbSNP:

587777735

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136519566C>A , CM000671.2:g.136519566C>A	GRCh38
NC_000009.11:g.139414018C>A , CM000671.1:g.139414018C>A	GRCh37
NC_000009.10:g.138533839C>A	NCBI36
NG_007458.1:g.31221G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.743-1G>T MANE Select	ENSP00000498587.1:n.743-1G>T
ENST00000679595.1:c.743-1G>T	ENSP00000506241.1:n.743-1G>T
ENST00000680133.1:c.743-1G>T	ENSP00000505319.1:n.743-1G>T
ENST00000680218.1:c.743-1G>T	ENSP00000505339.1:n.743-1G>T
ENST00000680668.1:c.743-1G>T	ENSP00000506336.1:n.743-1G>T
ENST00000680924.1:c.743-1G>T	ENSP00000506031.1:n.743-1G>T
ENST00000681135.1:c.743-1G>T	ENSP00000506636.1:n.743-1G>T
ENST00000681454.1:c.141-1G>T	ENSP00000505763.1:n.141-1G>T
ENST00000277541.6:c.743-1G>T	ENSP00000277541.6:n.743-1G>T
NM_017617.3:c.743-1G>T	NP_060087.3:n.743-1G>T
XM_011518717.1:c.44-1G>T	XP_011517019.1:n.44-1G>T
NM_017617.5:c.743-1G>T MANE Select	NP_060087.3:n.743-1G>T
XM_011518717.2:c.20-1G>T	XP_011517019.2:n.20-1G>T

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