Canonical Allele Identifier: CA375631450

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318213
• MyVariant Identifiers: chr9:g.139391677C>T (hg19) ; chr9:g.136497225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497225C>T , CM000671.2:g.136497225C>T	GRCh38
NC_000009.11:g.139391677C>T , CM000671.1:g.139391677C>T	GRCh37
NC_000009.10:g.138511498C>T	NCBI36
NG_007458.1:g.53562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6514G>A MANE Select	ENSP00000498587.1:p.Glu2172Lys
ENST00000679595.1:c.*1554G>A	ENSP00000506241.1:n.*1554G>A
ENST00000679969.1:n.3110G>A
ENST00000680003.1:n.2846G>A
ENST00000680133.1:c.6400G>A	ENSP00000505319.1:p.Glu2134Lys
ENST00000680218.1:c.6394G>A	ENSP00000505339.1:p.Glu2132Lys
ENST00000680668.1:c.6400G>A	ENSP00000506336.1:p.Glu2134Lys
ENST00000680778.1:c.4111G>A	ENSP00000506033.1:p.Glu1371Lys
ENST00000680924.1:c.*3914G>A	ENSP00000506031.1:n.*3914G>A
ENST00000681135.1:c.*4123G>A	ENSP00000506636.1:n.*4123G>A
ENST00000681298.1:n.4619G>A
ENST00000681454.1:c.*5750G>A	ENSP00000505763.1:n.*5750G>A
ENST00000277541.6:c.6514G>A	ENSP00000277541.6:p.Glu2172Lys
NM_017617.3:c.6514G>A	NP_060087.3:p.Glu2172Lys
XM_011518717.1:c.5815G>A	XP_011517019.1:p.Glu1939Lys
NM_017617.5:c.6514G>A MANE Select	NP_060087.3:p.Glu2172Lys
XM_011518717.2:c.5791G>A	XP_011517019.2:p.Glu1931Lys