Canonical Allele Identifier: CA375633865

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321606
• gnomAD v4: 9-136498933-T-C
• MyVariant Identifiers: chr9:g.139393385T>C (hg19) ; chr9:g.136498933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498933T>C , CM000671.2:g.136498933T>C	GRCh38
NC_000009.11:g.139393385T>C , CM000671.1:g.139393385T>C	GRCh37
NC_000009.10:g.138513206T>C	NCBI36
NG_007458.1:g.51854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6146A>G MANE Select	ENSP00000498587.1:p.Lys2049Arg
ENST00000679595.1:c.*1186A>G	ENSP00000506241.1:n.*1186A>G
ENST00000679969.1:n.2742A>G
ENST00000680003.1:n.2478A>G
ENST00000680133.1:c.6032A>G	ENSP00000505319.1:p.Lys2011Arg
ENST00000680218.1:c.6026A>G	ENSP00000505339.1:p.Lys2009Arg
ENST00000680668.1:c.6032A>G	ENSP00000506336.1:p.Lys2011Arg
ENST00000680778.1:c.3743A>G	ENSP00000506033.1:p.Lys1248Arg
ENST00000680924.1:c.*3546A>G	ENSP00000506031.1:n.*3546A>G
ENST00000681135.1:c.*3755A>G	ENSP00000506636.1:n.*3755A>G
ENST00000681298.1:n.4251A>G
ENST00000681454.1:c.*5382A>G	ENSP00000505763.1:n.*5382A>G
ENST00000277541.6:c.6146A>G	ENSP00000277541.6:p.Lys2049Arg
NM_017617.3:c.6146A>G	NP_060087.3:p.Lys2049Arg
XM_011518717.1:c.5447A>G	XP_011517019.1:p.Lys1816Arg
NM_017617.5:c.6146A>G MANE Select	NP_060087.3:p.Lys2049Arg
XM_011518717.2:c.5423A>G	XP_011517019.2:p.Lys1808Arg