Canonical Allele Identifier: CA375644351

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399217G>T (hg19) ; chr9:g.136504765G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504765G>T , CM000671.2:g.136504765G>T	GRCh38
NC_000009.11:g.139399217G>T , CM000671.1:g.139399217G>T	GRCh37
NC_000009.10:g.138519038G>T	NCBI36
NG_007458.1:g.46022C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2733C>A
ENST00000651671.1:c.4926C>A MANE Select	ENSP00000498587.1:p.Asp1642Glu
ENST00000679595.1:c.4926C>A	ENSP00000506241.1:p.Asp1642Glu
ENST00000680133.1:c.4812C>A	ENSP00000505319.1:p.Asp1604Glu
ENST00000680218.1:c.4806C>A	ENSP00000505339.1:p.Asp1602Glu
ENST00000680668.1:c.4812C>A	ENSP00000506336.1:p.Asp1604Glu
ENST00000680778.1:c.2523C>A	ENSP00000506033.1:p.Asp841Glu
ENST00000680924.1:c.*2326C>A	ENSP00000506031.1:n.*2326C>A
ENST00000681135.1:c.*2535C>A	ENSP00000506636.1:n.*2535C>A
ENST00000681298.1:n.1739C>A
ENST00000681454.1:c.*4162C>A	ENSP00000505763.1:n.*4162C>A
ENST00000277541.6:c.4926C>A	ENSP00000277541.6:p.Asp1642Glu
ENST00000494783.1:n.81C>A
NM_017617.3:c.4926C>A	NP_060087.3:p.Asp1642Glu
XM_011518717.1:c.4227C>A	XP_011517019.1:p.Asp1409Glu
NM_017617.5:c.4926C>A MANE Select	NP_060087.3:p.Asp1642Glu
XM_011518717.2:c.4203C>A	XP_011517019.2:p.Asp1401Glu