Canonical Allele Identifier: CA3169231612
Community Standard Title: NM_017617.5(NOTCH1):c.4847T= (p.Ile1616=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504844A= , CM000671.2:g.136504844A= GRCh38
NC_000009.11:g.139399296A= , CM000671.1:g.139399296A= GRCh37
NC_000009.10:g.138519117A= NCBI36
NG_007458.1:g.45943T=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4847T= MANE Select NP_060087.3:p.Ile1616=
ENST00000651671.1:c.4847T= MANE Select ENSP00000498587.1:p.Ile1616=
NM_017617.3:c.4847T= NP_060087.3:p.Ile1616=
ENST00000277541.6:c.4847T= ENSP00000277541.6:p.Ile1616=
ENST00000494783.1:n.2T=
ENST00000645828.1:n.2654T=
ENST00000679595.1:c.4847T= ENSP00000506241.1:p.Ile1616=
ENST00000680133.1:c.4733T= ENSP00000505319.1:p.Ile1578=
ENST00000680218.1:c.4727T= ENSP00000505339.1:p.Ile1576=
ENST00000680668.1:c.4733T= ENSP00000506336.1:p.Ile1578=
ENST00000680778.1:c.2444T= ENSP00000506033.1:p.Ile815=
ENST00000680924.1:c.*2247T= ENSP00000506031.1:n.*2247T=
ENST00000681135.1:c.*2456T= ENSP00000506636.1:n.*2456T=
ENST00000681298.1:n.1660T=
ENST00000681454.1:c.*4083T= ENSP00000505763.1:n.*4083T=
XM_011518717.1:c.4148T= XP_011517019.1:p.Ile1383=
XM_011518717.2:c.4124T= XP_011517019.2:p.Ile1375=