Canonical Allele Identifier: CA404524307
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 591197
ClinVar RCV Id: RCV000722374 RCV002051888
dbSNP Id: rs758997426
MyVariant Identifiers: chr19:g.15297769C>T (hg19) chr19:g.15186958C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186958C>T , CM000681.2:g.15186958C>T GRCh38
NC_000019.9:g.15297769C>T , CM000681.1:g.15297769C>T GRCh37
NC_000019.8:g.15158769C>T NCBI36
NG_009819.1:g.19024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1871G>A MANE Select ENSP00000263388.1:p.Cys624Tyr
ENST00000263388.6:c.1871G>A ENSP00000263388.1:p.Cys624Tyr
ENST00000601011.1:c.1868G>A ENSP00000473138.1:p.Cys623Tyr
NM_000435.2:c.1871G>A NP_000426.2:p.Cys624Tyr
XM_005259924.3:c.1871G>A XP_005259981.1:p.Cys624Tyr
XM_005259924.4:c.1871G>A XP_005259981.1:p.Cys624Tyr
NM_000435.3:c.1871G>A MANE Select NP_000426.2:p.Cys624Tyr
Search 100 bp 5'
Search 100 bp 3'