Canonical Allele Identifier: CA467832704
Community Standard Title: NM_017617.5(NOTCH1):c.4854C>G (p.Pro1618=)
Gene: NOTCH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504837G>C , CM000671.2:g.136504837G>C GRCh38
NC_000009.11:g.139399289G>C , CM000671.1:g.139399289G>C GRCh37
NC_000009.10:g.138519110G>C NCBI36
NG_007458.1:g.45950C>G

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4854C>G MANE Select NP_060087.3:p.Pro1618=
ENST00000651671.1:c.4854C>G MANE Select ENSP00000498587.1:p.Pro1618=
NM_017617.3:c.4854C>G NP_060087.3:p.Pro1618=
ENST00000277541.6:c.4854C>G ENSP00000277541.6:p.Pro1618=
ENST00000494783.1:n.9C>G
ENST00000645828.1:n.2661C>G
ENST00000679595.1:c.4854C>G ENSP00000506241.1:p.Pro1618=
ENST00000680133.1:c.4740C>G ENSP00000505319.1:p.Pro1580=
ENST00000680218.1:c.4734C>G ENSP00000505339.1:p.Pro1578=
ENST00000680668.1:c.4740C>G ENSP00000506336.1:p.Pro1580=
ENST00000680778.1:c.2451C>G ENSP00000506033.1:p.Pro817=
ENST00000680924.1:c.*2254C>G ENSP00000506031.1:n.*2254C>G
ENST00000681135.1:c.*2463C>G ENSP00000506636.1:n.*2463C>G
ENST00000681298.1:n.1667C>G
ENST00000681454.1:c.*4090C>G ENSP00000505763.1:n.*4090C>G
XM_011518717.1:c.4155C>G XP_011517019.1:p.Pro1385=
XM_011518717.2:c.4131C>G XP_011517019.2:p.Pro1377=
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