Canonical Allele Identifier: CA467742012

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399193G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504741G>T , CM000671.2:g.136504741G>T	GRCh38
NC_000009.11:g.139399193G>T , CM000671.1:g.139399193G>T	GRCh37
NC_000009.10:g.138519014G>T	NCBI36
NG_007458.1:g.46046C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2757C>A
ENST00000651671.1:c.4950C>A MANE Select	ENSP00000498587.1:p.Ala1650=
ENST00000679595.1:c.4950C>A	ENSP00000506241.1:p.Ala1650=
ENST00000680133.1:c.4836C>A	ENSP00000505319.1:p.Ala1612=
ENST00000680218.1:c.4830C>A	ENSP00000505339.1:p.Ala1610=
ENST00000680668.1:c.4836C>A	ENSP00000506336.1:p.Ala1612=
ENST00000680778.1:c.2547C>A	ENSP00000506033.1:p.Ala849=
ENST00000680924.1:c.*2350C>A	ENSP00000506031.1:n.*2350C>A
ENST00000681135.1:c.*2559C>A	ENSP00000506636.1:n.*2559C>A
ENST00000681298.1:n.1763C>A
ENST00000681454.1:c.*4186C>A	ENSP00000505763.1:n.*4186C>A
ENST00000277541.6:c.4950C>A	ENSP00000277541.6:p.Ala1650=
ENST00000494783.1:n.105C>A
NM_017617.3:c.4950C>A	NP_060087.3:p.Ala1650=
XM_011518717.1:c.4251C>A	XP_011517019.1:p.Ala1417=
NM_017617.5:c.4950C>A MANE Select	NP_060087.3:p.Ala1650=
XM_011518717.2:c.4227C>A	XP_011517019.2:p.Ala1409=