Canonical Allele Identifier: CA404524368
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186970T>G , CM000681.2:g.15186970T>G GRCh38
NC_000019.9:g.15297781T>G , CM000681.1:g.15297781T>G GRCh37
NC_000019.8:g.15158781T>G NCBI36
NG_009819.1:g.19012A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1859A>C MANE Select ENSP00000263388.1:p.Asn620Thr
ENST00000263388.6:c.1859A>C ENSP00000263388.1:p.Asn620Thr
ENST00000601011.1:c.1856A>C ENSP00000473138.1:p.Asn619Thr
NM_000435.2:c.1859A>C NP_000426.2:p.Asn620Thr
XM_005259924.3:c.1859A>C XP_005259981.1:p.Asn620Thr
XM_005259924.4:c.1859A>C XP_005259981.1:p.Asn620Thr
NM_000435.3:c.1859A>C MANE Select NP_000426.2:p.Asn620Thr