Canonical Allele Identifier: CA375645685

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399480C>G (hg19) ; chr9:g.136505028C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505028C>G , CM000671.2:g.136505028C>G	GRCh38
NC_000009.11:g.139399480C>G , CM000671.1:g.139399480C>G	GRCh37
NC_000009.10:g.138519301C>G	NCBI36
NG_007458.1:g.45759G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2470G>C
ENST00000651671.1:c.4663G>C MANE Select	ENSP00000498587.1:p.Glu1555Gln
ENST00000679595.1:c.4663G>C	ENSP00000506241.1:p.Glu1555Gln
ENST00000680133.1:c.4549G>C	ENSP00000505319.1:p.Glu1517Gln
ENST00000680218.1:c.4543G>C	ENSP00000505339.1:p.Glu1515Gln
ENST00000680668.1:c.4549G>C	ENSP00000506336.1:p.Glu1517Gln
ENST00000680778.1:c.2260G>C	ENSP00000506033.1:p.Glu754Gln
ENST00000680924.1:c.*2063G>C	ENSP00000506031.1:n.*2063G>C
ENST00000681135.1:c.*2272G>C	ENSP00000506636.1:n.*2272G>C
ENST00000681298.1:n.1476G>C
ENST00000681454.1:c.*3899G>C	ENSP00000505763.1:n.*3899G>C
ENST00000277541.6:c.4663G>C	ENSP00000277541.6:p.Glu1555Gln
NM_017617.3:c.4663G>C	NP_060087.3:p.Glu1555Gln
XM_011518717.1:c.3964G>C	XP_011517019.1:p.Glu1322Gln
NM_017617.5:c.4663G>C MANE Select	NP_060087.3:p.Glu1555Gln
XM_011518717.2:c.3940G>C	XP_011517019.2:p.Glu1314Gln