Canonical Allele Identifier: CA5342028
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409078
dbSNP Id: rs367825691

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136519469T>C , CM000671.2:g.136519469T>C GRCh38
NC_000009.11:g.139413921T>C , CM000671.1:g.139413921T>C GRCh37
NC_000009.10:g.138533742T>C NCBI36
NG_007458.1:g.31318A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000651671.1:c.839A>G MANE Select ENSP00000498587.1:p.Asn280Ser
ENST00000679595.1:c.839A>G ENSP00000506241.1:p.Asn280Ser
ENST00000680133.1:c.839A>G ENSP00000505319.1:p.Asn280Ser
ENST00000680218.1:c.839A>G ENSP00000505339.1:p.Asn280Ser
ENST00000680668.1:c.839A>G ENSP00000506336.1:p.Asn280Ser
ENST00000680924.1:c.839A>G ENSP00000506031.1:p.Asn280Ser
ENST00000681135.1:c.839A>G ENSP00000506636.1:p.Asn280Ser
ENST00000681454.1:c.*75A>G ENSP00000505763.1:n.*75A>G
ENST00000277541.6:c.839A>G ENSP00000277541.6:p.Asn280Ser
NM_017617.3:c.839A>G NP_060087.3:p.Asn280Ser
XM_011518717.1:c.140A>G XP_011517019.1:p.Asn47Ser
NM_017617.5:c.839A>G MANE Select NP_060087.3:p.Asn280Ser
XM_011518717.2:c.116A>G XP_011517019.2:p.Asn39Ser