Canonical Allele Identifier: CA467832435

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 3018369
• ClinVar RCV Id: RCV003877032
• dbSNP Id: rs2133318284
• MyVariant Identifiers: chr9:g.139391696G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497244G>A , CM000671.2:g.136497244G>A	GRCh38
NC_000009.11:g.139391696G>A , CM000671.1:g.139391696G>A	GRCh37
NC_000009.10:g.138511517G>A	NCBI36
NG_007458.1:g.53543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6495C>T MANE Select	ENSP00000498587.1:p.Gly2165=
ENST00000679595.1:c.*1535C>T	ENSP00000506241.1:n.*1535C>T
ENST00000679969.1:n.3091C>T
ENST00000680003.1:n.2827C>T
ENST00000680133.1:c.6381C>T	ENSP00000505319.1:p.Gly2127=
ENST00000680218.1:c.6375C>T	ENSP00000505339.1:p.Gly2125=
ENST00000680668.1:c.6381C>T	ENSP00000506336.1:p.Gly2127=
ENST00000680778.1:c.4092C>T	ENSP00000506033.1:p.Gly1364=
ENST00000680924.1:c.*3895C>T	ENSP00000506031.1:n.*3895C>T
ENST00000681135.1:c.*4104C>T	ENSP00000506636.1:n.*4104C>T
ENST00000681298.1:n.4600C>T
ENST00000681454.1:c.*5731C>T	ENSP00000505763.1:n.*5731C>T
ENST00000277541.6:c.6495C>T	ENSP00000277541.6:p.Gly2165=
NM_017617.3:c.6495C>T	NP_060087.3:p.Gly2165=
XM_011518717.1:c.5796C>T	XP_011517019.1:p.Gly1932=
NM_017617.5:c.6495C>T MANE Select	NP_060087.3:p.Gly2165=
XM_011518717.2:c.5772C>T	XP_011517019.2:p.Gly1924=