Canonical Allele Identifier: CA2692643167

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136518021-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518021G>A , CM000671.2:g.136518021G>A	GRCh38
NC_000009.11:g.139412473G>A , CM000671.1:g.139412473G>A	GRCh37
NC_000009.10:g.138532294G>A	NCBI36
NG_007458.1:g.32766C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1256-84C>T MANE Select	ENSP00000498587.1:n.1256-84C>T
ENST00000679595.1:c.1256-84C>T	ENSP00000506241.1:n.1256-84C>T
ENST00000680133.1:c.1256-84C>T	ENSP00000505319.1:n.1256-84C>T
ENST00000680218.1:c.1256-84C>T	ENSP00000505339.1:n.1256-84C>T
ENST00000680668.1:c.1256-84C>T	ENSP00000506336.1:n.1256-84C>T
ENST00000680924.1:c.1256-84C>T	ENSP00000506031.1:n.1256-84C>T
ENST00000681135.1:c.1256-84C>T	ENSP00000506636.1:n.1256-84C>T
ENST00000681454.1:c.*492-84C>T	ENSP00000505763.1:n.*492-84C>T
ENST00000277541.6:c.1256-84C>T	ENSP00000277541.6:n.1256-84C>T
NM_017617.3:c.1256-84C>T	NP_060087.3:n.1256-84C>T
XM_011518717.1:c.557-84C>T	XP_011517019.1:n.557-84C>T
NM_017617.5:c.1256-84C>T MANE Select	NP_060087.3:n.1256-84C>T
XM_011518717.2:c.533-84C>T	XP_011517019.2:n.533-84C>T