Canonical Allele Identifier: CA375631468

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318239
• MyVariant Identifiers: chr9:g.139391685C>T (hg19) ; chr9:g.136497233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497233C>T , CM000671.2:g.136497233C>T	GRCh38
NC_000009.11:g.139391685C>T , CM000671.1:g.139391685C>T	GRCh37
NC_000009.10:g.138511506C>T	NCBI36
NG_007458.1:g.53554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6506G>A MANE Select	ENSP00000498587.1:p.Gly2169Glu
ENST00000679595.1:c.*1546G>A	ENSP00000506241.1:n.*1546G>A
ENST00000679969.1:n.3102G>A
ENST00000680003.1:n.2838G>A
ENST00000680133.1:c.6392G>A	ENSP00000505319.1:p.Gly2131Glu
ENST00000680218.1:c.6386G>A	ENSP00000505339.1:p.Gly2129Glu
ENST00000680668.1:c.6392G>A	ENSP00000506336.1:p.Gly2131Glu
ENST00000680778.1:c.4103G>A	ENSP00000506033.1:p.Gly1368Glu
ENST00000680924.1:c.*3906G>A	ENSP00000506031.1:n.*3906G>A
ENST00000681135.1:c.*4115G>A	ENSP00000506636.1:n.*4115G>A
ENST00000681298.1:n.4611G>A
ENST00000681454.1:c.*5742G>A	ENSP00000505763.1:n.*5742G>A
ENST00000277541.6:c.6506G>A	ENSP00000277541.6:p.Gly2169Glu
NM_017617.3:c.6506G>A	NP_060087.3:p.Gly2169Glu
XM_011518717.1:c.5807G>A	XP_011517019.1:p.Gly1936Glu
NM_017617.5:c.6506G>A MANE Select	NP_060087.3:p.Gly2169Glu
XM_011518717.2:c.5783G>A	XP_011517019.2:p.Gly1928Glu