Canonical Allele Identifier: CA375631350

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318088
• MyVariant Identifiers: chr9:g.139391652C>T (hg19) ; chr9:g.136497200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497200C>T , CM000671.2:g.136497200C>T	GRCh38
NC_000009.11:g.139391652C>T , CM000671.1:g.139391652C>T	GRCh37
NC_000009.10:g.138511473C>T	NCBI36
NG_007458.1:g.53587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6539G>A MANE Select	ENSP00000498587.1:p.Arg2180Lys
ENST00000679595.1:c.*1579G>A	ENSP00000506241.1:n.*1579G>A
ENST00000679969.1:n.3135G>A
ENST00000680003.1:n.2871G>A
ENST00000680133.1:c.6425G>A	ENSP00000505319.1:p.Arg2142Lys
ENST00000680218.1:c.6419G>A	ENSP00000505339.1:p.Arg2140Lys
ENST00000680668.1:c.6425G>A	ENSP00000506336.1:p.Arg2142Lys
ENST00000680778.1:c.4136G>A	ENSP00000506033.1:p.Arg1379Lys
ENST00000680924.1:c.*3939G>A	ENSP00000506031.1:n.*3939G>A
ENST00000681135.1:c.*4148G>A	ENSP00000506636.1:n.*4148G>A
ENST00000681298.1:n.4644G>A
ENST00000681454.1:c.*5775G>A	ENSP00000505763.1:n.*5775G>A
ENST00000277541.6:c.6539G>A	ENSP00000277541.6:p.Arg2180Lys
NM_017617.3:c.6539G>A	NP_060087.3:p.Arg2180Lys
XM_011518717.1:c.5840G>A	XP_011517019.1:p.Arg1947Lys
NM_017617.5:c.6539G>A MANE Select	NP_060087.3:p.Arg2180Lys
XM_011518717.2:c.5816G>A	XP_011517019.2:p.Arg1939Lys