Canonical Allele Identifier: CA467738023

Gene: NOTCH1

Linked Data

• dbSNP Id: rs765106690
• MyVariant Identifiers: chr9:g.139393390G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498938G>C , CM000671.2:g.136498938G>C	GRCh38
NC_000009.11:g.139393390G>C , CM000671.1:g.139393390G>C	GRCh37
NC_000009.10:g.138513211G>C	NCBI36
NG_007458.1:g.51849C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6141C>G MANE Select	ENSP00000498587.1:p.Leu2047=
ENST00000679595.1:c.*1181C>G	ENSP00000506241.1:n.*1181C>G
ENST00000679969.1:n.2737C>G
ENST00000680003.1:n.2473C>G
ENST00000680133.1:c.6027C>G	ENSP00000505319.1:p.Leu2009=
ENST00000680218.1:c.6021C>G	ENSP00000505339.1:p.Leu2007=
ENST00000680668.1:c.6027C>G	ENSP00000506336.1:p.Leu2009=
ENST00000680778.1:c.3738C>G	ENSP00000506033.1:p.Leu1246=
ENST00000680924.1:c.*3541C>G	ENSP00000506031.1:n.*3541C>G
ENST00000681135.1:c.*3750C>G	ENSP00000506636.1:n.*3750C>G
ENST00000681298.1:n.4246C>G
ENST00000681454.1:c.*5377C>G	ENSP00000505763.1:n.*5377C>G
ENST00000277541.6:c.6141C>G	ENSP00000277541.6:p.Leu2047=
NM_017617.3:c.6141C>G	NP_060087.3:p.Leu2047=
XM_011518717.1:c.5442C>G	XP_011517019.1:p.Leu1814=
NM_017617.5:c.6141C>G MANE Select	NP_060087.3:p.Leu2047=
XM_011518717.2:c.5418C>G	XP_011517019.2:p.Leu1806=