Canonical Allele Identifier: CA375631262

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317994
• MyVariant Identifiers: chr9:g.139391631T>C (hg19) ; chr9:g.136497179T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497179T>C , CM000671.2:g.136497179T>C	GRCh38
NC_000009.11:g.139391631T>C , CM000671.1:g.139391631T>C	GRCh37
NC_000009.10:g.138511452T>C	NCBI36
NG_007458.1:g.53608A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6560A>G MANE Select	ENSP00000498587.1:p.Lys2187Arg
ENST00000679595.1:c.*1600A>G	ENSP00000506241.1:n.*1600A>G
ENST00000679969.1:n.3156A>G
ENST00000680003.1:n.2892A>G
ENST00000680133.1:c.6446A>G	ENSP00000505319.1:p.Lys2149Arg
ENST00000680218.1:c.6440A>G	ENSP00000505339.1:p.Lys2147Arg
ENST00000680668.1:c.6446A>G	ENSP00000506336.1:p.Lys2149Arg
ENST00000680778.1:c.4157A>G	ENSP00000506033.1:p.Lys1386Arg
ENST00000680924.1:c.*3960A>G	ENSP00000506031.1:n.*3960A>G
ENST00000681135.1:c.*4169A>G	ENSP00000506636.1:n.*4169A>G
ENST00000681298.1:n.4665A>G
ENST00000681454.1:c.*5796A>G	ENSP00000505763.1:n.*5796A>G
ENST00000277541.6:c.6560A>G	ENSP00000277541.6:p.Lys2187Arg
NM_017617.3:c.6560A>G	NP_060087.3:p.Lys2187Arg
XM_011518717.1:c.5861A>G	XP_011517019.1:p.Lys1954Arg
NM_017617.5:c.6560A>G MANE Select	NP_060087.3:p.Lys2187Arg
XM_011518717.2:c.5837A>G	XP_011517019.2:p.Lys1946Arg