Canonical Allele Identifier: CA3167268963
Community Standard Title: NM_017617.5(NOTCH1):c.4848C= (p.Ile1616=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504843G= , CM000671.2:g.136504843G= GRCh38
NC_000009.11:g.139399295G= , CM000671.1:g.139399295G= GRCh37
NC_000009.10:g.138519116G= NCBI36
NG_007458.1:g.45944C=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4848C= MANE Select NP_060087.3:p.Ile1616=
ENST00000651671.1:c.4848C= MANE Select ENSP00000498587.1:p.Ile1616=
NM_017617.3:c.4848C= NP_060087.3:p.Ile1616=
ENST00000277541.6:c.4848C= ENSP00000277541.6:p.Ile1616=
ENST00000494783.1:n.3C=
ENST00000645828.1:n.2655C=
ENST00000679595.1:c.4848C= ENSP00000506241.1:p.Ile1616=
ENST00000680133.1:c.4734C= ENSP00000505319.1:p.Ile1578=
ENST00000680218.1:c.4728C= ENSP00000505339.1:p.Ile1576=
ENST00000680668.1:c.4734C= ENSP00000506336.1:p.Ile1578=
ENST00000680778.1:c.2445C= ENSP00000506033.1:p.Ile815=
ENST00000680924.1:c.*2248C= ENSP00000506031.1:n.*2248C=
ENST00000681135.1:c.*2457C= ENSP00000506636.1:n.*2457C=
ENST00000681298.1:n.1661C=
ENST00000681454.1:c.*4084C= ENSP00000505763.1:n.*4084C=
XM_011518717.1:c.4149C= XP_011517019.1:p.Ile1383=
XM_011518717.2:c.4125C= XP_011517019.2:p.Ile1375=