Canonical Allele Identifier: CA404532946
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15302676A>C (hg19) chr19:g.15191865A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191865A>C , CM000681.2:g.15191865A>C GRCh38
NC_000019.9:g.15302676A>C , CM000681.1:g.15302676A>C GRCh37
NC_000019.8:g.15163676A>C NCBI36
NG_009819.1:g.14117T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.682T>G MANE Select ENSP00000263388.1:p.Phe228Val
ENST00000263388.6:c.682T>G ENSP00000263388.1:p.Phe228Val
ENST00000601011.1:c.679T>G ENSP00000473138.1:p.Phe227Val
NM_000435.2:c.682T>G NP_000426.2:p.Phe228Val
XM_005259924.3:c.682T>G XP_005259981.1:p.Phe228Val
XM_005259924.4:c.682T>G XP_005259981.1:p.Phe228Val
NM_000435.3:c.682T>G MANE Select NP_000426.2:p.Phe228Val
Search 100 bp 5'
Search 100 bp 3'