Canonical Allele Identifier: CA375631898
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2832860
ClinVar RCV Id: RCV003749962
dbSNP Id: rs767587816

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497374G>C , CM000671.2:g.136497374G>C GRCh38
NC_000009.11:g.139391826G>C , CM000671.1:g.139391826G>C GRCh37
NC_000009.10:g.138511647G>C NCBI36
NG_007458.1:g.53413C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6365C>G MANE Select ENSP00000498587.1:p.Pro2122Arg
ENST00000679595.1:c.*1405C>G ENSP00000506241.1:n.*1405C>G
ENST00000679969.1:n.2961C>G
ENST00000680003.1:n.2697C>G
ENST00000680133.1:c.6251C>G ENSP00000505319.1:p.Pro2084Arg
ENST00000680218.1:c.6245C>G ENSP00000505339.1:p.Pro2082Arg
ENST00000680668.1:c.6251C>G ENSP00000506336.1:p.Pro2084Arg
ENST00000680778.1:c.3962C>G ENSP00000506033.1:p.Pro1321Arg
ENST00000680924.1:c.*3765C>G ENSP00000506031.1:n.*3765C>G
ENST00000681135.1:c.*3974C>G ENSP00000506636.1:n.*3974C>G
ENST00000681298.1:n.4470C>G
ENST00000681454.1:c.*5601C>G ENSP00000505763.1:n.*5601C>G
ENST00000277541.6:c.6365C>G ENSP00000277541.6:p.Pro2122Arg
NM_017617.3:c.6365C>G NP_060087.3:p.Pro2122Arg
XM_011518717.1:c.5666C>G XP_011517019.1:p.Pro1889Arg
NM_017617.5:c.6365C>G MANE Select NP_060087.3:p.Pro2122Arg
XM_011518717.2:c.5642C>G XP_011517019.2:p.Pro1881Arg