Canonical Allele Identifier: CA375644706
Community Standard Title: NM_017617.5(NOTCH1):c.4847T>A (p.Ile1616Asn)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4847T>A MANE Select NP_060087.3:p.Ile1616Asn
ENST00000651671.1:c.4847T>A MANE Select ENSP00000498587.1:p.Ile1616Asn
NM_017617.3:c.4847T>A NP_060087.3:p.Ile1616Asn
ENST00000277541.6:c.4847T>A ENSP00000277541.6:p.Ile1616Asn
ENST00000494783.1:n.2T>A
ENST00000645828.1:n.2654T>A
ENST00000679595.1:c.4847T>A ENSP00000506241.1:p.Ile1616Asn
ENST00000680133.1:c.4733T>A ENSP00000505319.1:p.Ile1578Asn
ENST00000680218.1:c.4727T>A ENSP00000505339.1:p.Ile1576Asn
ENST00000680668.1:c.4733T>A ENSP00000506336.1:p.Ile1578Asn
ENST00000680778.1:c.2444T>A ENSP00000506033.1:p.Ile815Asn
ENST00000680924.1:c.*2247T>A ENSP00000506031.1:n.*2247T>A
ENST00000681135.1:c.*2456T>A ENSP00000506636.1:n.*2456T>A
ENST00000681298.1:n.1660T>A
ENST00000681454.1:c.*4083T>A ENSP00000505763.1:n.*4083T>A
XM_011518717.1:c.4148T>A XP_011517019.1:p.Ile1383Asn
XM_011518717.2:c.4124T>A XP_011517019.2:p.Ile1375Asn