Canonical Allele Identifier: CA375631340

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391650T>C (hg19) ; chr9:g.136497198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497198T>C , CM000671.2:g.136497198T>C	GRCh38
NC_000009.11:g.139391650T>C , CM000671.1:g.139391650T>C	GRCh37
NC_000009.10:g.138511471T>C	NCBI36
NG_007458.1:g.53589A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6541A>G MANE Select	ENSP00000498587.1:p.Lys2181Glu
ENST00000679595.1:c.*1581A>G	ENSP00000506241.1:n.*1581A>G
ENST00000679969.1:n.3137A>G
ENST00000680003.1:n.2873A>G
ENST00000680133.1:c.6427A>G	ENSP00000505319.1:p.Lys2143Glu
ENST00000680218.1:c.6421A>G	ENSP00000505339.1:p.Lys2141Glu
ENST00000680668.1:c.6427A>G	ENSP00000506336.1:p.Lys2143Glu
ENST00000680778.1:c.4138A>G	ENSP00000506033.1:p.Lys1380Glu
ENST00000680924.1:c.*3941A>G	ENSP00000506031.1:n.*3941A>G
ENST00000681135.1:c.*4150A>G	ENSP00000506636.1:n.*4150A>G
ENST00000681298.1:n.4646A>G
ENST00000681454.1:c.*5777A>G	ENSP00000505763.1:n.*5777A>G
ENST00000277541.6:c.6541A>G	ENSP00000277541.6:p.Lys2181Glu
NM_017617.3:c.6541A>G	NP_060087.3:p.Lys2181Glu
XM_011518717.1:c.5842A>G	XP_011517019.1:p.Lys1948Glu
NM_017617.5:c.6541A>G MANE Select	NP_060087.3:p.Lys2181Glu
XM_011518717.2:c.5818A>G	XP_011517019.2:p.Lys1940Glu