Canonical Allele Identifier: CA375644702
Community Standard Title: NM_017617.5(NOTCH1):c.4847T>G (p.Ile1616Ser)
Gene: NOTCH1 HGNC NCBI
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4847T>G MANE Select NP_060087.3:p.Ile1616Ser
ENST00000651671.1:c.4847T>G MANE Select ENSP00000498587.1:p.Ile1616Ser
NM_017617.3:c.4847T>G NP_060087.3:p.Ile1616Ser
ENST00000277541.6:c.4847T>G ENSP00000277541.6:p.Ile1616Ser
ENST00000494783.1:n.2T>G
ENST00000645828.1:n.2654T>G
ENST00000679595.1:c.4847T>G ENSP00000506241.1:p.Ile1616Ser
ENST00000680133.1:c.4733T>G ENSP00000505319.1:p.Ile1578Ser
ENST00000680218.1:c.4727T>G ENSP00000505339.1:p.Ile1576Ser
ENST00000680668.1:c.4733T>G ENSP00000506336.1:p.Ile1578Ser
ENST00000680778.1:c.2444T>G ENSP00000506033.1:p.Ile815Ser
ENST00000680924.1:c.*2247T>G ENSP00000506031.1:n.*2247T>G
ENST00000681135.1:c.*2456T>G ENSP00000506636.1:n.*2456T>G
ENST00000681298.1:n.1660T>G
ENST00000681454.1:c.*4083T>G ENSP00000505763.1:n.*4083T>G
XM_011518717.1:c.4148T>G XP_011517019.1:p.Ile1383Ser
XM_011518717.2:c.4124T>G XP_011517019.2:p.Ile1375Ser
Search 100 bp 5'
Search 100 bp 3'