Canonical Allele Identifier: CA375645427

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337326
• MyVariant Identifiers: chr9:g.139399442C>G (hg19) ; chr9:g.136504990C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504990C>G , CM000671.2:g.136504990C>G	GRCh38
NC_000009.11:g.139399442C>G , CM000671.1:g.139399442C>G	GRCh37
NC_000009.10:g.138519263C>G	NCBI36
NG_007458.1:g.45797G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2508G>C
ENST00000651671.1:c.4701G>C MANE Select	ENSP00000498587.1:p.Glu1567Asp
ENST00000679595.1:c.4701G>C	ENSP00000506241.1:p.Glu1567Asp
ENST00000680133.1:c.4587G>C	ENSP00000505319.1:p.Glu1529Asp
ENST00000680218.1:c.4581G>C	ENSP00000505339.1:p.Glu1527Asp
ENST00000680668.1:c.4587G>C	ENSP00000506336.1:p.Glu1529Asp
ENST00000680778.1:c.2298G>C	ENSP00000506033.1:p.Glu766Asp
ENST00000680924.1:c.*2101G>C	ENSP00000506031.1:n.*2101G>C
ENST00000681135.1:c.*2310G>C	ENSP00000506636.1:n.*2310G>C
ENST00000681298.1:n.1514G>C
ENST00000681454.1:c.*3937G>C	ENSP00000505763.1:n.*3937G>C
ENST00000277541.6:c.4701G>C	ENSP00000277541.6:p.Glu1567Asp
NM_017617.3:c.4701G>C	NP_060087.3:p.Glu1567Asp
XM_011518717.1:c.4002G>C	XP_011517019.1:p.Glu1334Asp
NM_017617.5:c.4701G>C MANE Select	NP_060087.3:p.Glu1567Asp
XM_011518717.2:c.3978G>C	XP_011517019.2:p.Glu1326Asp