Canonical Allele Identifier: CA375644972
Community Standard Title: NM_017617.5(NOTCH1):c.4793G>C (p.Arg1598Pro)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504898C>G , CM000671.2:g.136504898C>G GRCh38
NC_000009.11:g.139399350C>G , CM000671.1:g.139399350C>G GRCh37
NC_000009.10:g.138519171C>G NCBI36
NG_007458.1:g.45889G>C

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4793G>C MANE Select NP_060087.3:p.Arg1598Pro
ENST00000651671.1:c.4793G>C MANE Select ENSP00000498587.1:p.Arg1598Pro
NM_017617.3:c.4793G>C NP_060087.3:p.Arg1598Pro
ENST00000277541.6:c.4793G>C ENSP00000277541.6:p.Arg1598Pro
ENST00000645828.1:n.2600G>C
ENST00000679595.1:c.4793G>C ENSP00000506241.1:p.Arg1598Pro
ENST00000680133.1:c.4679G>C ENSP00000505319.1:p.Arg1560Pro
ENST00000680218.1:c.4673G>C ENSP00000505339.1:p.Arg1558Pro
ENST00000680668.1:c.4679G>C ENSP00000506336.1:p.Arg1560Pro
ENST00000680778.1:c.2390G>C ENSP00000506033.1:p.Arg797Pro
ENST00000680924.1:c.*2193G>C ENSP00000506031.1:n.*2193G>C
ENST00000681135.1:c.*2402G>C ENSP00000506636.1:n.*2402G>C
ENST00000681298.1:n.1606G>C
ENST00000681454.1:c.*4029G>C ENSP00000505763.1:n.*4029G>C
XM_011518717.1:c.4094G>C XP_011517019.1:p.Arg1365Pro
XM_011518717.2:c.4070G>C XP_011517019.2:p.Arg1357Pro