Canonical Allele Identifier: CA467832174

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391606G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497154G>T , CM000671.2:g.136497154G>T	GRCh38
NC_000009.11:g.139391606G>T , CM000671.1:g.139391606G>T	GRCh37
NC_000009.10:g.138511427G>T	NCBI36
NG_007458.1:g.53633C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6585C>A MANE Select	ENSP00000498587.1:p.Gly2195=
ENST00000679595.1:c.*1625C>A	ENSP00000506241.1:n.*1625C>A
ENST00000679969.1:n.3181C>A
ENST00000680003.1:n.2917C>A
ENST00000680133.1:c.6471C>A	ENSP00000505319.1:p.Gly2157=
ENST00000680218.1:c.6465C>A	ENSP00000505339.1:p.Gly2155=
ENST00000680668.1:c.6471C>A	ENSP00000506336.1:p.Gly2157=
ENST00000680778.1:c.4182C>A	ENSP00000506033.1:p.Gly1394=
ENST00000680924.1:c.*3985C>A	ENSP00000506031.1:n.*3985C>A
ENST00000681135.1:c.*4194C>A	ENSP00000506636.1:n.*4194C>A
ENST00000681298.1:n.4690C>A
ENST00000681454.1:c.*5821C>A	ENSP00000505763.1:n.*5821C>A
ENST00000277541.6:c.6585C>A	ENSP00000277541.6:p.Gly2195=
NM_017617.3:c.6585C>A	NP_060087.3:p.Gly2195=
XM_011518717.1:c.5886C>A	XP_011517019.1:p.Gly1962=
NM_017617.5:c.6585C>A MANE Select	NP_060087.3:p.Gly2195=
XM_011518717.2:c.5862C>A	XP_011517019.2:p.Gly1954=