Canonical Allele Identifier: CA375644057
Gene: NOTCH1 HGNC NCBI

Linked Data

dbSNP Id: rs1843049319

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504694A>T , CM000671.2:g.136504694A>T GRCh38
NC_000009.11:g.139399146A>T , CM000671.1:g.139399146A>T GRCh37
NC_000009.10:g.138518967A>T NCBI36
NG_007458.1:g.46093T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645828.1:n.2804T>A
ENST00000651671.1:c.4997T>A MANE Select ENSP00000498587.1:p.Leu1666Gln
ENST00000679595.1:c.4997T>A ENSP00000506241.1:p.Leu1666Gln
ENST00000680133.1:c.4883T>A ENSP00000505319.1:p.Leu1628Gln
ENST00000680218.1:c.4877T>A ENSP00000505339.1:p.Leu1626Gln
ENST00000680668.1:c.4883T>A ENSP00000506336.1:p.Leu1628Gln
ENST00000680778.1:c.2594T>A ENSP00000506033.1:p.Leu865Gln
ENST00000680924.1:c.*2397T>A ENSP00000506031.1:n.*2397T>A
ENST00000681135.1:c.*2606T>A ENSP00000506636.1:n.*2606T>A
ENST00000681298.1:n.1810T>A
ENST00000681454.1:c.*4233T>A ENSP00000505763.1:n.*4233T>A
ENST00000277541.6:c.4997T>A ENSP00000277541.6:p.Leu1666Gln
ENST00000494783.1:n.152T>A
NM_017617.3:c.4997T>A NP_060087.3:p.Leu1666Gln
XM_011518717.1:c.4298T>A XP_011517019.1:p.Leu1433Gln
NM_017617.5:c.4997T>A MANE Select NP_060087.3:p.Leu1666Gln
XM_011518717.2:c.4274T>A XP_011517019.2:p.Leu1425Gln