Canonical Allele Identifier: CA404533817
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572414
ClinVar RCV Id: RCV003314299
dbSNP Id: rs2145441901
MyVariant Identifiers: chr19:g.15302947C>T (hg19) chr19:g.15192136C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192136C>T , CM000681.2:g.15192136C>T GRCh38
NC_000019.9:g.15302947C>T , CM000681.1:g.15302947C>T GRCh37
NC_000019.8:g.15163947C>T NCBI36
NG_009819.1:g.13846G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.503G>A MANE Select ENSP00000263388.1:p.Cys168Tyr
ENST00000263388.6:c.503G>A ENSP00000263388.1:p.Cys168Tyr
ENST00000601011.1:c.500G>A ENSP00000473138.1:p.Cys167Tyr
NM_000435.2:c.503G>A NP_000426.2:p.Cys168Tyr
XM_005259924.3:c.503G>A XP_005259981.1:p.Cys168Tyr
XM_005259924.4:c.503G>A XP_005259981.1:p.Cys168Tyr
NM_000435.3:c.503G>A MANE Select NP_000426.2:p.Cys168Tyr
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