Canonical Allele Identifier: CA375555079

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136510807T>C , CM000671.2:g.136510807T>C	GRCh38
NC_000009.11:g.139405259T>C , CM000671.1:g.139405259T>C	GRCh37
NC_000009.10:g.138525080T>C	NCBI36
NG_007458.1:g.39980A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.2588-2A>G MANE Select	NP_060087.3:n.2588-2A>G
ENST00000651671.1:c.2588-2A>G MANE Select	ENSP00000498587.1:n.2588-2A>G
NM_017617.3:c.2588-2A>G	NP_060087.3:n.2588-2A>G
ENST00000277541.6:c.2588-2A>G	ENSP00000277541.6:n.2588-2A>G
ENST00000645828.1:n.395-2A>G
ENST00000646957.2:n.211-2A>G
ENST00000679595.1:c.2588-2A>G	ENSP00000506241.1:n.2588-2A>G
ENST00000680133.1:c.2474-2A>G	ENSP00000505319.1:n.2474-2A>G
ENST00000680218.1:c.2588-2A>G	ENSP00000505339.1:n.2588-2A>G
ENST00000680668.1:c.2474-2A>G	ENSP00000506336.1:n.2474-2A>G
ENST00000680778.1:c.185-2A>G	ENSP00000506033.1:n.185-2A>G
ENST00000680924.1:c.2588-7A>G	ENSP00000506031.1:n.2588-7A>G
ENST00000681135.1:c.*197-2A>G	ENSP00000506636.1:n.*197-2A>G
ENST00000681454.1:c.*1824-2A>G	ENSP00000505763.1:n.*1824-2A>G
XM_011518717.1:c.1889-2A>G	XP_011517019.1:n.1889-2A>G
XM_011518717.2:c.1865-2A>G	XP_011517019.2:n.1865-2A>G