Canonical Allele Identifier: CA375644700
Community Standard Title: NM_017617.5(NOTCH1):c.4848C>G (p.Ile1616Met)
Gene: NOTCH1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4848C>G MANE Select NP_060087.3:p.Ile1616Met
ENST00000651671.1:c.4848C>G MANE Select ENSP00000498587.1:p.Ile1616Met
NM_017617.3:c.4848C>G NP_060087.3:p.Ile1616Met
ENST00000277541.6:c.4848C>G ENSP00000277541.6:p.Ile1616Met
ENST00000494783.1:n.3C>G
ENST00000645828.1:n.2655C>G
ENST00000679595.1:c.4848C>G ENSP00000506241.1:p.Ile1616Met
ENST00000680133.1:c.4734C>G ENSP00000505319.1:p.Ile1578Met
ENST00000680218.1:c.4728C>G ENSP00000505339.1:p.Ile1576Met
ENST00000680668.1:c.4734C>G ENSP00000506336.1:p.Ile1578Met
ENST00000680778.1:c.2445C>G ENSP00000506033.1:p.Ile815Met
ENST00000680924.1:c.*2248C>G ENSP00000506031.1:n.*2248C>G
ENST00000681135.1:c.*2457C>G ENSP00000506636.1:n.*2457C>G
ENST00000681298.1:n.1661C>G
ENST00000681454.1:c.*4084C>G ENSP00000505763.1:n.*4084C>G
XM_011518717.1:c.4149C>G XP_011517019.1:p.Ile1383Met
XM_011518717.2:c.4125C>G XP_011517019.2:p.Ile1375Met
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