Canonical Allele Identifier: CA467718152

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133368401
• MyVariant Identifiers: chr9:g.139412241C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517789C>A , CM000671.2:g.136517789C>A	GRCh38
NC_000009.11:g.139412241C>A , CM000671.1:g.139412241C>A	GRCh37
NC_000009.10:g.138532062C>A	NCBI36
NG_007458.1:g.32998G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1404G>T MANE Select	ENSP00000498587.1:p.Leu468=
ENST00000679595.1:c.1404G>T	ENSP00000506241.1:p.Leu468=
ENST00000680133.1:c.1404G>T	ENSP00000505319.1:p.Leu468=
ENST00000680218.1:c.1404G>T	ENSP00000505339.1:p.Leu468=
ENST00000680668.1:c.1404G>T	ENSP00000506336.1:p.Leu468=
ENST00000680924.1:c.1404G>T	ENSP00000506031.1:p.Leu468=
ENST00000681135.1:c.1404G>T	ENSP00000506636.1:p.Leu468=
ENST00000681454.1:c.*640G>T	ENSP00000505763.1:n.*640G>T
ENST00000277541.6:c.1404G>T	ENSP00000277541.6:p.Leu468=
NM_017617.3:c.1404G>T	NP_060087.3:p.Leu468=
XM_011518717.1:c.705G>T	XP_011517019.1:p.Leu235=
NM_017617.5:c.1404G>T MANE Select	NP_060087.3:p.Leu468=
XM_011518717.2:c.681G>T	XP_011517019.2:p.Leu227=